Variant (rsID / SNP)

rs142124529

rs142124529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,508,343. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MLH3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:75508343
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
Allele change: Missense_N1147I

Associated conditions / phenotypes

Lynch syndrome|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.