Variant (rsID / SNP)

rs28756978

rs28756978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,516,082. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MLH3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:75516082
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
Allele change: Missense_R93G

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.