Variant (rsID / SNP)
rs144707485
rs144707485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,515,646. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MLH3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:75515646
- Cytoband
- 14q24.3
- HGVS
- NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
- Allele change
- Missense_Y238S
Associated conditions / phenotypes
Colorectal cancer, hereditary nonpolyposis, type 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.