Variant (rsID / SNP)

rs139946652

rs139946652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,642,394. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FANCMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:45642394
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.2297A>G (p.Glu766Gly)
Allele change: Missense_E740G

Associated conditions / phenotypes

Fanconi anemia|Hereditary cancer-predisposing syndrome

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.