Variant (rsID / SNP)
rs63751049
rs63751049 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,061,893. Clinical significance in the table: Benign.
Reference-table entries
MLH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37061893
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
- Allele change
- Silent
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, non-polyposis|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.