Variant (rsID / SNP)
rs63750217
rs63750217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,446. Clinical significance in the table: Pathogenic.
Reference-table entries
MLH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37090446
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
- Allele change
- Missense_A340T
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2|Turcot syndrome|Muir-Torré syndrome|Hereditary nonpolyposis colon cancer|Muir-Torré syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.