Variant (rsID / SNP)
rs2275253
rs2275253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHIA. Location: chromosome 1, position 111,861,841. The table records no clinical significance for this variant.
Reference-table entries
CHIANot classified
- Variant type
- missense_variant
- Chromosome / position
- 1:111861841
- HGVS
- NM_201653.4,c.1015A>G,p.Ile339Val
- Allele change
- Missense_I178V
Associated conditions / phenotypes
Missense_I231V|Missense_I231V|Missense_I231V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.