Variant (rsID / SNP)

rs28756990

rs28756990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AREL1, MLH3. Location: chromosome 14, position 75,514,138. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AREL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:75514138
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
Allele change: Missense_V741F

Associated conditions / phenotypes

Endometrial carcinoma|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.