Variant (rsID / SNP)
rs2043449
rs2043449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP20A1. Location: chromosome 2, position 204,116,690. The table records no clinical significance for this variant.
Reference-table entries
CYP20A1Not classified
- Variant type
- missense_variant&splice_region_variant
- Chromosome / position
- 2:204116690
- HGVS
- NM_001371695.1,c.290C>T,p.Ser97Leu
- Allele change
- Missense_S97L
Associated conditions / phenotypes
Lung Cancer Susceptibility 1|Adenocarcinoma|Heart Disease|Coronary Heart Disease 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.