Variant (rsID / SNP)
rs63750047
rs63750047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,702,205. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47702205
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
- Allele change
- Nonsense_Q601X
Associated conditions / phenotypes
Muir-Torré syndrome|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.