Variant (rsID / SNP)
rs148317871
rs148317871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,092,086. Clinical significance in the table: Uncertain significance.
Reference-table entries
MLH1Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37092086
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
- Allele change
- Missense_G397E
Associated conditions / phenotypes
Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|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.