Variant (rsID / SNP)
rs146359682
rs146359682 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,028,072. Clinical significance in the table: Uncertain significance.
Reference-table entries
MSH6Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:48028072
- Cytoband
- 2p16.3
- HGVS
- NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
- Allele change
- Missense_N854H
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
