VWA8 Chromosome 13
Von Willebrand factor A domain containing 8
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What This Gene Does
Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
13q14.11
Ensembl
ENSG00000102763
Associated Conditions (2)
Nonsyndromic cleft lip palate
Retinitis pigmentosa 97
Key Variants
RS138075452
Conflicting classifications of pathogenicity
Nonsyndromic cleft lip palate, Retinitis pigmentosa 97, Nonsyndromic cleft lip palate
Health Risk
RS1566417012
Likely pathogenic
Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
Health Risk
RS370112959
Likely pathogenic
Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
Health Risk
RS73464952
Likely pathogenic
Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138075452 | Health Risk | Conflicting classifications of pathogenicity | Nonsyndromic cleft lip palate, Retinitis pigmentosa 97, Nonsyndromic cleft lip palate |
| RS1566417012 | Health Risk | Likely pathogenic | Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate |
| RS370112959 | Health Risk | Likely pathogenic | Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate |
| RS73464952 | Health Risk | Likely pathogenic | Nonsyndromic cleft lip palate, Nonsyndromic cleft lip palate |