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Variant ID | 451 |
---|---|
Genomic Coordinate (GRCh38) | g.22168390G>C |
Variant | c.1482+1G>C |
Variant Start Position | 1482 |
Location | Intron 13 |
Amino Acid Change | p.? |
ACMG Call | Pathogenic |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Splice donor |
Variant Type | Splicing |
PMID | 9768674, 21050253, 24926462, 16636593, 31102713, 34141703, 34806794 |
Article Count | 7 |
Times Observed | 3-5 |
Clinical Phenotype | Lower Limb Deformities |
ACMG Categories | pvs1, ps3, pm2, ppc |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22186507 ref:G alt:C was not found in gnomAD exomes or genomes. |
Variant in Clinvar | Yes |
ClinVar Classification | Pathogenic |
Categories In Literature | ppc, ps3 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | 31102713: fx/exon skipping 31102713: assay/reverse transcription pcr 31102713: method/site-directed mutagenesis 31102713: model/minigene 31102713: flg/partial loss of function |
hg19 Mapping Failed | No |
Literature Alleles | X-22186507-G-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22186507-G-C |
Other Alleles | - |
Note | nan |
Warnings | - |