rs121908643

This is a variant in the ASS1 gene that changes a serine to an leucine.

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ClinVar annotation

Pathogenic★★★☆

6 submitters4 publications

ASS1-related disorder; Citrullinemia; Citrullinemia type I (CTNL1)

About ASS1

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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