rs754043007
This is a variant in the ASNS gene that changes a serine to an phenylalanine.
▶ClinVar annotation
Abnormality of neuronal migration; Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome; Neurodevelopmental abnormality
View on ClinVar →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]
View all ASNS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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