Variant (rsID / SNP)
rs2020873
rs2020873 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,092,025. Clinical significance in the table: Benign.
Reference-table entries
MLH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:37092025
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
- Allele change
- Missense_H377Y
Associated conditions / phenotypes
Lynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.