rs138075452
This variant is located in the VWA8 gene.
▶ClinVar annotation
Conflicting Classifications
4 submitters2 publicationsNonsyndromic cleft lip palate; not provided; Retinitis pigmentosa 97
View on ClinVar →About VWA8
Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Apr 2025]
View all VWA8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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