Variant (rsID / SNP)
rs63750760
rs63750760 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,242. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MLH1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37067242
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
- Allele change
- Missense_R44C
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary breast ovarian cancer syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.