Variant (rsID / SNP)
rs121908648
rs121908648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ASS1. Location: chromosome 9, position 133,364,809. Clinical significance in the table: Uncertain significance.
Reference-table entries
ASS1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:133364809
- Cytoband
- 9q34.11
- HGVS
- NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
- Allele change
- Missense_K310Q
Associated conditions / phenotypes
Citrullinemia type I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.