Variant (rsID / SNP)

rs192838388

rs192838388 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,355,785. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ASS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:133355785
Cytoband: 9q34.11
HGVS: NM_054012.4(ASS1):c.787G>A (p.Val263Met)
Allele change: Missense_V263M

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.