Variant (rsID / SNP)
rs63749792
rs63749792 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,029. Clinical significance in the table: Likely pathogenic.
Reference-table entries
MLH1Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37090029
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
- Allele change
- Missense_P299S
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon|Hereditary nonpolyposis colon cancer|Colorectal cancer, hereditary nonpolyposis, type 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.