Variant (rsID / SNP)
rs63750710
rs63750710 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,061,902. Clinical significance in the table: Pathogenic.
Reference-table entries
MLH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37061902
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.986A>C (p.His329Pro)
- Allele change
- Silent
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.