Variant (rsID / SNP)
rs183276875
rs183276875 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,364,800. 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
- 9:133364800
- Cytoband
- 9q34.11
- HGVS
- NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
- Allele change
- Missense_R307C
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.