Variant (rsID / SNP)
rs1057517617
rs1057517617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,499. Clinical significance in the table: Likely pathogenic.
Reference-table entries
MLH1Likely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 3:37067499
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1409+1_1409+6del
Associated conditions / phenotypes
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.