Variant (rsID / SNP)

rs121908647

rs121908647 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,370,368. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:133370368
Cytoband: 9q34.11
HGVS: NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
Allele change: Missense_G362V

Associated conditions / phenotypes

Citrullinemia, mild|Citrullinemia type I|Citrullinemia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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