Variant (rsID / SNP)
rs9677948
rs9677948 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLHC1. Location: chromosome 2, position 55,436,934. The table records no clinical significance for this variant.
Reference-table entries
CLHC1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 2:55436934
- HGVS
- NM_152385.4,c.533C>T,p.Ala178Val
- Allele change
- Missense_A178V
Associated conditions / phenotypes
Missense_A56V|Missense_A56V|Missense_A38V|Silent|Missense_A56V|Missense_A178V|Silent|Missense_A56V|Silent|Missense_A56V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.