Rare Disease Genes

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Introduction

The LDLRAP1 gene, which stands for low-density lipoprotein receptor adaptor protein 1, is located on chromosome 1p36.11. It has 9 exons spanning 25 kb and encodes a 308 amino acid protein (1, 2). The LDLRAP1 gene encodes a cytosolic protein which interacts with the cytoplasmic tail of the LDL receptor (2).

Expressed in multiple tissues, including liver, a deficiency in this gene product leads to LDL receptor malfunction and cause autosomal recessive hypercholesterolemia (2).

Variant List

To see more information, click on the variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and Laboratory variant classification, please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Gene Symbol	Times Observed	Variant Type	Effect Type	Display Variant Classification	PMID	Location	Phenotype	Present in ClinVar

LDLRAP1_0001	c.?	Deletion (Exons 5-9)	LDLRAP1	2	Copy Number Loss	Deletion	Pathogenic	37119068	Exons 5-9		Unknown
LDLRAP1_0002	c.-17_-12dup	5UTR	LDLRAP1	1	Duplication	UTR	Uncertain Significance	28965616	Exon 1		No
LDLRAP1_0003	c.1A>C	p.Met1?	LDLRAP1	1	SNV	Initiator codon	Pathogenic	30777337	Exon 1		No
LDLRAP1_0004	c.1A>G	p.Met1?	LDLRAP1	2	SNV	Initiator codon	Pathogenic	29245109	Exon 1		Yes
LDLRAP1_0005	c.1_2insG	p.Met1?	LDLRAP1	1	Insertion	Initiator codon	Pathogenic	30777337	Exon 1		No
LDLRAP1_0006	c.3G>T	p.Met1?	LDLRAP1	1	SNV	Initiator codon	Pathogenic	30777337	Exon 1		No
LDLRAP1_0008	c.65G>A	p.Trp22*	LDLRAP1	59	SNV	Nonsense	Pathogenic	11326085, 11897284, 14717060, Show More >>	Exon 1	Corneal arcus, xanthomas, coronary artery disease, peripheral vascular disease, Show More >>	Yes
LDLRAP1_0007	c.65G>C	p.Trp22Ser	LDLRAP1	1	SNV	Missense	Uncertain Significance	32073192	Exon 1		Yes
LDLRAP1_0009	c.70G>A	p.Gly24Ser	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 1		Yes
LDLRAP1_0010	c.70_71del	p.Gly24Argfs*9	LDLRAP1	4	Deletion	Frameshift	Pathogenic	12464675	Exon 1		No
LDLRAP1_0011	c.71del	p.Gly24Alafs*32	LDLRAP1	6	Deletion	Frameshift	Pathogenic	11326085, 29396260, 30318064	Exon 1	Coronary artery disease, cabg	No
LDLRAP1_0012	c.71dup	p.Gly25Argfs*9	LDLRAP1	4	Duplication	Frameshift	Pathogenic	11326085, 15209474	Exon 1	Corneal arcus, xanthomas, angina, coronary artery disease	No
LDLRAP1_0013	c.88+31C>A	Intronic	LDLRAP1	1	SNV	Intronic	Uncertain Significance	35626767	Intron 1		No
LDLRAP1_0014	c.89-1G>C	Intronic	LDLRAP1	7	SNV	Splice acceptor	Pathogenic	15485476, 28432645, 28965616, Show More >>	Intron 1	Xanthomas, coronary artery disease, metabolic phenotype, myocardial infarction	Yes
LDLRAP1_0015	c.109G>T	p.Asp37Tyr	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 2		No
LDLRAP1_0016	c.113C>T	p.Thr38Met	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 2		Yes
LDLRAP1_0017	c.115C>T	p.Arg39Trp	LDLRAP1	1	SNV	Missense	Uncertain Significance	32073192	Exon 2		Yes
LDLRAP1_0018	c.122C>T	p.Thr41Met	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 2		Yes
LDLRAP1_0019	c.143T>C	p.Phe48Ser	LDLRAP1	2	SNV	Missense	Uncertain Significance	30876877, 33640001	Exon 2	Corneal arcus, xanthomas, angina, coronary artery disease, myocardial infarction, peripheral vascular disease, stroke	No
LDLRAP1_0020	c.152A>T	p.Lys51Met	LDLRAP1	1	SNV	Missense	Uncertain Significance	16870701	Exon 2		No
LDLRAP1_0021	c.167C>T	p.Thr56Met	LDLRAP1	5	SNV	Missense	Likely Pathogenic	20124734, 32073192	Exon 2		Yes
LDLRAP1_0022	c.200C>T	p.Ser67Leu	LDLRAP1	1	SNV	Missense	Uncertain Significance	36329474	Exon 2		No
LDLRAP1_0023	c.205G>A	p.Ala69Thr	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 2		Yes
LDLRAP1_0024	c.207del	p.Ala70Profs*19	LDLRAP1	4	Deletion	Frameshift	Pathogenic	27578128, 29245109, 36769678	Exon 2	Corneal arcus, xanthomas	No
LDLRAP1_0025	c.212T>C	p.Ile71Thr	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 2		No
LDLRAP1_0026	c.213C>G	p.Ile71Met	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 2		No
LDLRAP1_0027	c.235A>G	p.Lys79Glu	LDLRAP1	1	SNV	Missense	Uncertain Significance	32073192	Exon 3		Yes
LDLRAP1_0028	c.274G>A	p.Val92Met	LDLRAP1	2	SNV	Missense	Uncertain Significance	30637778, 32073192	Exon 3		No
LDLRAP1_0029	c.281C>A	p.Pro94Gln	LDLRAP1	1	SNV	Missense	Uncertain Significance	36499307	Exon 3		Yes
LDLRAP1_0030	c.284G>A	p.Arg95Gln	LDLRAP1	1	SNV	Missense	Likely Benign	32878475	Exon 3		Yes
LDLRAP1_0031	c.344+1G>A	Intronic	LDLRAP1	3	SNV	Splice donor	Pathogenic	28964736, 29396260	Intron 3		Yes
LDLRAP1_0032	c.345-2A>G	Intronic	LDLRAP1	8	SNV	Splice acceptor	Pathogenic	34425670	Intron 3	Xanthelasmas, xanthomas, Xanthelasmas, xanthomas, coronary artery disease, metabolic phenotype, myocardial infarction	No
LDLRAP1_0033	c.350C>A	p.Ser117Tyr	LDLRAP1	1	SNV	Missense	Likely Pathogenic	20231386	Exon 4		No
LDLRAP1_0034	c.359C>T	p.Thr120Ile	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 4		No
LDLRAP1_0035	c.374A>G	p.His125Arg	LDLRAP1	1	SNV	Missense	Uncertain Significance	34998859	Exon 4		No
LDLRAP1_0036	c.376G>A	p.Asp126Asn	LDLRAP1	1	SNV	Missense	Likely Benign	37848354	Exon 4		Yes
LDLRAP1_0037	c.383T>G	p.Val128Gly	LDLRAP1	2	SNV	Missense	Uncertain Significance	35187127	Exon 4	Corneal arcus, xanthomas, coronary artery disease	No
LDLRAP1_0038	c.400C>T	p.Gln134*	LDLRAP1	1	SNV	Nonsense	Likely Pathogenic	34629743	Exon 4		Yes
LDLRAP1_0039	c.406C>T	p.Gln136*	LDLRAP1	54	SNV	Nonsense	Pathogenic	10487776, 11326085, 12464675, Show More >>	Exon 4		Yes
LDLRAP1_0040	c.413A>G	p.Asn138Ser	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 4		Yes
LDLRAP1_0041	c.429C>A	p.Cys143*	LDLRAP1	1	SNV	Nonsense	Likely Pathogenic	34629743	Exon 4		Yes
LDLRAP1_0042	c.431dup	p.His144Glnfs*27	LDLRAP1	14	Duplication	Frameshift	Pathogenic	26723464, 29245109, 34971394, Show More >>	Exon 4	Coronary artery disease, cabg, stroke, Xanthomas, coronary artery disease	Yes
LDLRAP1_0043	c.432_433insA	p.Ala145Serfs*26	LDLRAP1	68	Insertion	Frameshift	Pathogenic	11326085, 11897284, 12535754, Show More >>	Exon 4	Corneal arcus, xanthomas, coronary artery disease, peripheral vascular disease, Show More >>	Yes
LDLRAP1_0044	c.448A>G	p.Lys150Glu	LDLRAP1	1	SNV	Missense	Uncertain Significance	16870701	Exon 4		No
LDLRAP1_0045	c.449A>T	p.Lys150Met	LDLRAP1	1	SNV	Missense	Uncertain Significance	16870701	Exon 4		No
LDLRAP1_0047	c.451C>G	p.Arg151Gly	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 4		No
LDLRAP1_0046	c.451C>T	p.Arg151Trp	LDLRAP1	1	SNV	Missense	Uncertain Significance	32073192	Exon 4		Yes
LDLRAP1_0048	c.457A>G	p.Met153Val	LDLRAP1	1	SNV	Missense	Likely Benign	28965616	Exon 4		No
LDLRAP1_0049	c.459+2T>C	Intronic	LDLRAP1	1	SNV	Splice donor	Likely Pathogenic	34629743	Intron 4		No
LDLRAP1_0050	c.459+2T>G	Intronic	LDLRAP1	4	SNV	Splice donor	Pathogenic	15599766	Intron 4		Yes
LDLRAP1_0051	c.459+22G>T	Intronic	LDLRAP1	1	SNV	Intronic	Benign	15599766	Intron 4		Yes
LDLRAP1_0052	c.460-1G>A	Intronic	LDLRAP1	2	SNV	Splice acceptor	Pathogenic	37119068	Intron 4		Yes
LDLRAP1_0053	c.467C>T	p.Ala156Val	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 5		Yes
LDLRAP1_0054	c.487C>T	p.Gln163*	LDLRAP1	1	SNV	Nonsense	Likely Pathogenic	34629743	Exon 5		Yes
LDLRAP1_0055	c.488A>C	p.Gln163Pro	LDLRAP1	3	SNV	Missense	Uncertain Significance	31734096, 32073192	Exon 5	Xanthomas	No
LDLRAP1_0056	c.493T>G	p.Phe165Val	LDLRAP1	1	SNV	Missense	Likely Pathogenic	12221107	Exon 5		No
LDLRAP1_0057	c.497A>G	p.Lys166Arg	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 5		Yes
LDLRAP1_0058	c.517C>T	p.Gln173*	LDLRAP1	1	SNV	Nonsense	Likely Pathogenic	27247956	Exon 5		No
LDLRAP1_0059	c.533-1G>A	Intronic	LDLRAP1	1	SNV	Splice acceptor	Likely Pathogenic	34629743	Intron 5		Yes
LDLRAP1_0060	c.569G>C	p.Gly190Ala	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 6		Yes
LDLRAP1_0061	c.577dup	p.Leu193Profs*28	LDLRAP1	2	Duplication	Frameshift	Pathogenic	15135266	Exon 6
LDLRAP1_0062	c.586del	p.Arg196Alafs*8	LDLRAP1	1	Deletion	Frameshift	Pathogenic	36980993	Exon 6		No
LDLRAP1_0063	c.602_603dup	p.Ser202Profs*3	LDLRAP1	1	Duplication	Frameshift	Pathogenic	29245109	Exon 6		No
LDLRAP1_0064	c.603dup	p.Ser202Leufs*19	LDLRAP1	6	Duplication	Frameshift	Pathogenic	28965616, 29245109, 35323704, Show More >>	Exon 6	Xanthelasmas, xanthomas, cardiac rhythm disorder, Xanthomas	No
LDLRAP1_0065	c.604del	p.Ser202Profs*2	LDLRAP1	1	Deletion	Frameshift	Pathogenic	29245109	Exon 6		Yes
LDLRAP1_0066	c.604T>C	p.Ser202Pro	LDLRAP1	1	SNV	Missense	Benign	12958046	Exon 6		Yes
LDLRAP1_0068	c.604_605delinsA	p.Ser202Thrfs*2	LDLRAP1	4	Delins	Frameshift	Pathogenic	30270081	Exon 6	Xanthomas, coronary artery disease	No
LDLRAP1_0067	c.604_605delinsCA	p.Ser202His	LDLRAP1	4	Delins	Missense	Uncertain Significance	31153816, 35323704	Exon 6	Cardiovascular disease, coronary artery disease	Yes
LDLRAP1_0069	c.605C>A	p.Ser202Tyr	LDLRAP1	6	SNV	Missense	Uncertain Significance	11326085, 28965616, 34297352	Exon 6		Yes
LDLRAP1_0071	c.605C>G	p.Ser202Cys	LDLRAP1	1	SNV	Missense	Likely Benign	32660911	Exon 6		No
LDLRAP1_0070	c.605C>T	p.Ser202Phe	LDLRAP1	1	SNV	Missense	Likely Benign	34629743	Exon 6		No
LDLRAP1_0072	c.606dup	p.Lys204Glufs*17	LDLRAP1	5	Duplication	Frameshift	Pathogenic	21872251, 22157599	Exon 6	Xanthomas, angina, coronary artery disease, Xanthomas, coronary artery disease	No
LDLRAP1_0073	c.621dup	p.Ala208Argfs*13	LDLRAP1	3	Duplication	Frameshift	Pathogenic	17761685	Exon 7
LDLRAP1_0074	c.622G>A	p.Ala208Thr	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		Yes
LDLRAP1_0075	c.626C>T	p.Thr209Ile	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		Yes
LDLRAP1_0076	c.649G>T	p.Glu217*	LDLRAP1	2	SNV	Nonsense	Pathogenic	34629743	Exon 7	Corneal arcus, xanthelasmas, xanthomas, coronary artery disease	Yes
LDLRAP1_0077	c.653C>T	p.Thr218Ile	LDLRAP1	1	SNV	Missense	Likely Benign	29245109	Exon 7		Yes
LDLRAP1_0078	c.654A>G	p.Thr218=	LDLRAP1	1	SNV	Silent	Benign	34629743	Exon 7		Yes
LDLRAP1_0079	c.676G>A	p.Val226Ile	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		Yes
LDLRAP1_0080	c.703G>A	p.Glu235Lys	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		Yes
LDLRAP1_0081	c.711G>A	p.Pro237=	LDLRAP1	1	SNV	Silent	Likely Benign	39380044	Exon 7		Yes
LDLRAP1_0082	c.712C>T	p.Arg238Trp	LDLRAP1	1	SNV	Missense	Benign	15530918	Exon 7		Yes
LDLRAP1_0083	c.713G>A	p.Arg238Gln	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		Yes
LDLRAP1_0084	c.722C>A	p.Ala241Asp	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 7		No
LDLRAP1_0085	c.742G>A	p.Val248Ile	LDLRAP1	1	SNV	Missense	Likely Benign	35626767	Exon 7		No
LDLRAP1_0086	c.748-7C>G	Intronic	LDLRAP1	1	SNV	Splice region	Uncertain Significance	32660911	Intron 7		Yes
LDLRAP1_0087	c.748-2A>G	Intronic	LDLRAP1	1	SNV	Splice acceptor	Pathogenic	28965616	Intron 7		No
LDLRAP1_0088	c.755A>C	p.Asp252Ala	LDLRAP1	1	SNV	Missense	Uncertain Significance	15728179	Exon 8		No
LDLRAP1_0089	c.758A>C	p.Asp253Ala	LDLRAP1	1	SNV	Missense	Uncertain Significance	15728179	Exon 8		No
LDLRAP1_0090	c.769G>A	p.Glu257Lys	LDLRAP1	1	SNV	Missense	Uncertain Significance	15728179	Exon 8		No
LDLRAP1_0091	c.770A>C	p.Glu257Ala	LDLRAP1	1	SNV	Missense	Uncertain Significance	15728179	Exon 8		No
LDLRAP1_0092	c.779C>T	p.Ser260Leu	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 8		No
LDLRAP1_0093	c.784C>T	p.Leu262Phe	LDLRAP1	1	SNV	Missense	Uncertain Significance	24798335	Exon 9		No
LDLRAP1_0094	c.811G>A	p.Val271Ile	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 9		Yes
LDLRAP1_0095	c.842T>C	p.Met281Thr	LDLRAP1	1	SNV	Missense	Likely Benign	32073192	Exon 9		Yes
LDLRAP1_0096	c.850G>A	p.Ala284Thr	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 9		Yes
LDLRAP1_0097	c.856T>G	p.Cys286Gly	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 9		No
LDLRAP1_0098	c.863C>T	p.Ser288Leu	LDLRAP1	2	SNV	Missense	Uncertain Significance	29245109, 32073192	Exon 9		Yes
LDLRAP1_0099	c.875G>T	p.Trp292Leu	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 9		No
LDLRAP1_0100	c.888C>G	p.Asp296Glu	LDLRAP1	1	SNV	Missense	Likely Benign	28965616	Exon 9		No
LDLRAP1_0101	c.896G>A	p.Gly299Asp	LDLRAP1	1	SNV	Missense	Likely Benign	28965616	Exon 9		No
LDLRAP1_0102	c.907G>A	p.Asp303Asn	LDLRAP1	1	SNV	Missense	Likely Benign	27247956	Exon 9		Yes
LDLRAP1_0103	c.910G>T	p.Asp304Tyr	LDLRAP1	1	SNV	Missense	Uncertain Significance	27247956	Exon 9		No
LDLRAP1_0104	c.(?_-93)_(747+1_748-1)del	Deletion (Exons 1-7)	LDLRAP1	2	Copy Number Loss	Deletion	Pathogenic	15135266	Exons 1-7, Introns 1-7		Unknown
LDLRAP1_0105	c.(532+1_533-1)_(*1894_?)del	Deletion (Exons 6-9)	LDLRAP1	1	Copy Number Loss	Deletion	Likely Pathogenic	17761685	Exons 6-9, Introns 5-9		Unknown
LDLRAP1_0106	c.(88+1_89-1)_(747+1_748-1)del	Deletion (Exons 2-7)	LDLRAP1	2	Copy Number Loss	Deletion	Likely Pathogenic	17761685	Exons 2-7, Introns 1-7		Unknown
LDLRAP1_0107	c.345-195_459+1298del	Deletion (Exon 4)	LDLRAP1	8	Copy Number Loss	Deletion	Pathogenic	17686643	Exon 4, Introns 3-4	Xanthomas	Unknown
LDLRAP1_0108	c.(344+1_345-1)_(459+1_460-1)del	Deletion (Exon 4)	LDLRAP1	8	Copy Number Loss	Deletion	Pathogenic	27578128, 29245109	Exon 4, Introns 3-4		Unknown
LDLRAP1_0109	c.(88+1_89-1)insN[2600]	Intronic	LDLRAP1	2	Insertion	Unknown	Pathogenic	12417523	Intron 1		Unknown
LDLRAP1_0110	c.?	p.Thr38fs	LDLRAP1	1		Frameshift	Likely Pathogenic	34629743	Exon 2		Unknown
LDLRAP1_0111	c.?	p.Asp37*	LDLRAP1	1		Nonsense	Likely Pathogenic	27247956	Exon 2		Unknown
LDLRAP1_0112	c.?	p.Phe48*	LDLRAP1	1		Nonsense	Likely Pathogenic	27247956	Exon 2		Unknown
LDLRAP1_0113	c.?	p.Leu90fs	LDLRAP1	1		Frameshift	Likely Pathogenic	34629743	Exon 3		Unknown
LDLRAP1_0114	c.?	p.Ser135fs	LDLRAP1	1		Frameshift	Likely Pathogenic	34629743	Exon 4		Unknown
LDLRAP1_0115	c.?	p.Phe165Ala	LDLRAP1	1		Missense	Likely Pathogenic	20231386	Exon 5		Unknown
LDLRAP1_0116	c.?	p.Phe171Leu	LDLRAP1	1		Missense	Likely Benign	27247956	Exon 5		Unknown
LDLRAP1_0117	c.?	p.Asp191fs	LDLRAP1	1		Frameshift	Likely Pathogenic	34629743	Exon 6		Unknown
LDLRAP1_0118	c.?	p.Glu180fs	LDLRAP1	1		Frameshift	Likely Pathogenic	34629743	Exon 6		Unknown
LDLRAP1_0119	c.?	p.Leu193fs	LDLRAP1	1		Frameshift	Pathogenic	15135266	Exon 6		Unknown
LDLRAP1_0120	c.?	p.Ser202*	LDLRAP1	1		Nonsense	Likely Pathogenic	27247956	Exon 6		Unknown
LDLRAP1_0121	c.?	p.Cys199Ala	LDLRAP1	1		Missense	Uncertain Significance	23564733	Exon 6		Unknown
LDLRAP1_0122	c.?	p.Ser202Ser	LDLRAP1	1		Missense	Uncertain Significance	20124734	Exon 6		Unknown
LDLRAP1_0123	c.?	p.Ala208fs	LDLRAP1	1		Frameshift	Pathogenic	12464675	Exon 7		Unknown
LDLRAP1_0124	c.?	p.Thr225*	LDLRAP1	1		Nonsense	Likely Pathogenic	27247956	Exon 7		Unknown
LDLRAP1_0125	c.?	p.Arg238Tyr	LDLRAP1	1		Missense	Uncertain Significance	34998859	Exon 7		Unknown
LDLRAP1_0126	c.?	p.Glu235Asp	LDLRAP1	1		Missense	Likely Benign	27247956	Exon 7		Unknown
LDLRAP1_0127	c.?	p.Leu212Ala	LDLRAP1	1		Missense	Uncertain Significance	16179341	Exon 7		Unknown
LDLRAP1_0128	c.?	p.Leu213Ala	LDLRAP1	1		Missense	Uncertain Significance	16179341	Exon 7		Unknown
LDLRAP1_0129	c.?	p.Arg261Ala	LDLRAP1	1		Missense	Uncertain Significance	15728179	Exon 8		Unknown
LDLRAP1_0130	c.?	p.Phe259Ala	LDLRAP1	1		Missense	Likely Pathogenic	15728179	Exon 8		Unknown
LDLRAP1_0131	c.?	p.Phe259Leu	LDLRAP1	1		Missense	Uncertain Significance	27247956	Exon 8		Unknown
LDLRAP1_0132	c.?	p.Arg266Ala	LDLRAP1	1		Missense	Likely Pathogenic	15728179	Exon 9		Unknown
LDLRAP1_0133	c.?	p.Cys286Ala	LDLRAP1	1		Missense	Uncertain Significance	23564733	Exon 9		Unknown
LDLRAP1_0134	c.?	p.Leu262Ala	LDLRAP1	1		Missense	Uncertain Significance	15728179	Exon 9		Unknown
LDLRAP1_0135	c.?	p.Leu262Glu	LDLRAP1	1		Missense	Uncertain Significance	24798335	Exon 9		Unknown
LDLRAP1_0136	c.?	p.Leu262Tyr	LDLRAP1	1		Missense	Uncertain Significance	24798335	Exon 9		Unknown
LDLRAP1_0137	c.(-93_1894)insN[2600]	p.?	LDLRAP1	1	Insertion	Unknown	Uncertain Significance	27084339	Unknown		Unknown
LDLRAP1_0138	c.(?_-93)_(88+1_89-1)dup	Gain (Exon 1)	LDLRAP1	1	Copy Number Gain	Duplication	Uncertain Significance	32041611	Exon 1, Intron 1		Unknown
LDLRAP1_0139	c.(88+1_89-1)insN[?]	Intronic	LDLRAP1	1	Insertion	Unknown	Uncertain Significance	12642779	Intron 1		Unknown

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Column Name	Table View	Detail View
Variant ID
Variant
Amino Acid Change
Gene Symbol
Times Observed
Variant Type
Effect Type
Functional Prediction
Display Variant Classification
Variant Classification Evidence Codes
Phenotype
PMID
Location
Article Count
Protein Domain
Laboratory Classification Last Revised Date
GRCh38
Record Last Revised Date
Present in ClinVar
Laboratory Classification
Predicted Variant Classification

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_015627.3 and there is no change between these versions with respect to the coding sequence.
Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
Click the Present in ClinVar link to go to the corresponding ClinVar VariationID.
Don’t see a variant of interest? Contribute data through the Register Variant form.
Explore considerations about Variants of Uncertain Significance (VUS)

Homozygous familial hypercholesterolemia

Introduction

Variant List

Gene Structure

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