Variant (rsID / SNP)
rs34136999
rs34136999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,641,430. Clinical significance in the table: Benign.
Reference-table entries
MSH2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47641430
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
- Allele change
- Missense_A272V
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Malignant tumor of breast
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.