Variant (rsID / SNP)
rs267607729
rs267607729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,042,481. Clinical significance in the table: Pathogenic.
Reference-table entries
MLH1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 3:37042481
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.244dup (p.Thr82fs)
Associated conditions / phenotypes
Lynch syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.