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Variant ID | 921 |
---|---|
Genomic Coordinate (GRCh38) | g.22247901 |
Variant | c.? |
Variant Start Position | 2199 |
Location | Exon 22 |
Amino Acid Change | p.Cys733Arg |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Missense |
Variant Type | SNV |
PMID | 29933856, 29735309, 34806794 |
Article Count | 3 |
Times Observed | < 3 |
Clinical Phenotype | - |
ACMG Categories | ps3, pm2, pp1, pp3 |
ACMG Explanations | pm2: chrX:22266017 ref:T alt:C was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1, ps3 |
No Contrary Evidence Found | TRUE |
ExAC Allele Frequency | 0 |
Thousand Genomes Allel Frequency | 0 |
Ontology Relations | 29735309: fx/upregulation of secondary protein 29735309: assay/real-time quantitative pcr 29735309: model/live mouse model 29735309: flg/gain of function 22527485: model/live mouse model |
hg19 Mapping Failed | FALSE |
Literature Alleles | X-22266017-T-C |
GnomAD Alleles | - |
DBNSFP Alleles | X-22266017-T-C |
Other Alleles | X-22266017-TGT-CGA X-22266017-TGT-CGG X-22266017-TGT-AGG X-22266017-TGT-CGC X-22266017-TGT-AGA |
Note | cDNA is not provided |
Warnings | - |