Variant (rsID / SNP)
rs369521379
rs369521379 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,048,554. 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
- 3:37048554
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.453G>A (p.Thr151=)
- Allele change
- Silent
Associated conditions / phenotypes
Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Lynch syndrome 1|Colorectal cancer, hereditary nonpolyposis, type 2|Breast and/or ovarian cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.