rs769086716

This variant is located in the ADSS1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Myopathy, distal, 5

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About ADSS1

This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all ADSS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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