Variant (rsID / SNP)

rs28756993

rs28756993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,513,142. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MLH3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:75513142
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn)
Allele change: Missense_D1073N

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.