Variant (rsID / SNP)

rs201931206

rs201931206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,489,592. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MLH3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:75489592
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.4015C>T (p.Leu1339Phe)
Allele change: Missense_L1315F

Associated conditions / phenotypes

Colorectal cancer, hereditary nonpolyposis, type 7

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.