Variant (rsID / SNP)
rs147453999
rs147453999 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,033,423. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MSH6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48033423
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
- Allele change
- Missense_T1113S
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Lynch syndrome|Carcinoma of colon|Colorectal cancer, hereditary nonpolyposis, type 5|bilateral breast cancer|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.