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Variant (rsID / SNP)

rs199751308

ASS1

rs199751308 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,364,810. 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
9:133364810
Cytoband
9q34.11
HGVS
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
Allele change
Missense_K310R

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.