Variant (rsID / SNP)
rs3197999
rs3197999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MST1, APEH. Location: chromosome 3, position 49,721,532. The table records no clinical significance for this variant.
Reference-table entries
MST1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 3:49721532
- HGVS
- NM_001393581.1,c.2143C>T,p.Arg715Cys
- Allele change
- Silent
Associated conditions / phenotypes
Inflammatory Bowel Disease|Cholangitis, Primary Sclerosing|Sclerosing Cholangitis|Cholangitis|Cholangiocarcinoma|Intrahepatic Cholangiocarcinoma|Biliary Tract Cancer|Inflammatory Bowel Disease 12|Bile Duct Disease|Aging|Ulcerative Colitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.