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Variant (rsID / SNP)

rs121908637

ASS1

rs121908637 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,342,161. 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
9:133342161
Cytoband
9q34.11
HGVS
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
Allele change
Missense_R157H

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.