Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs376371866

ASS1

rs376371866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,352,265. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ASS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:133352265
Cytoband
9q34.11
HGVS
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
Allele change
Missense_A202V

Associated conditions / phenotypes

Citrullinemia type I|Citrullinemia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.