Variant (rsID / SNP)

rs104893947

rs104893947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARG1. Location: chromosome 6, position 131,902,418. Clinical significance in the table: Pathogenic.

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Reference-table entries

ARG1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:131902418
Cytoband: 6q23.2
HGVS: NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)
Allele change: Nonsense_W122X

Associated conditions / phenotypes

Arginase deficiency

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.