Variant (rsID / SNP)

rs370595480

rs370595480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,355,803. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ASS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:133355803
Cytoband: 9q34.11
HGVS: NM_054012.4(ASS1):c.805G>A (p.Val269Met)
Allele change: Missense_V269M

Associated conditions / phenotypes

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.