Variant (rsID / SNP)
rs63751657
rs63751657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,083,822. Clinical significance in the table: Pathogenic.
Reference-table entries
MLH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37083822
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
- Allele change
- Synonymous_S236S
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colon cancer|Colon cancer|Lynch syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.