Variant (rsID / SNP)
rs1057517541
rs1057517541 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,308. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
MLH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37067308
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
- Allele change
- Nonsense_Q66X
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colon cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.