Variant (rsID / SNP)
rs63751597
rs63751597 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,056,035. 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
- 3:37056035
- Cytoband
- 3p22.2
- HGVS
- NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
