rs568570377

This is a variant in the ASNS gene that changes a arginine to an histidine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

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About ASNS

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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