Variant (rsID / SNP)
rs63750447
rs63750447 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,240. Clinical significance in the table: Benign.
Reference-table entries
MLH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37067240
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
- Allele change
- Missense_V43D
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Lynch syndrome 1|Gastric adenocarcinoma|Lung adenocarcinoma|Colorectal cancer, hereditary nonpolyposis, type 2|Colorectal cancer, hereditary nonpolyposis, type 2|Turcot syndrome|Muir-Torré syndrome|Hereditary nonpolyposis colorectal neoplasms|Bile duct cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.