Variant (rsID / SNP)

rs121908643

rs121908643 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,327,668. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ASS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:133327668
Cytoband: 9q34.11
HGVS: NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
Allele change: Missense_S18L

Associated conditions / phenotypes

Citrullinemia type I

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.