Variant (rsID / SNP)
rs371265106
rs371265106 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,355,834. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ASS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:133355834
- Cytoband
- 9q34.11
- HGVS
- NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
- Allele change
- Missense_R279Q
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.