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Variant (rsID / SNP)

rs143006771

FANCM

rs143006771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,620,607. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:45620607
Cytoband
14q21.2
HGVS
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
Allele change
Missense_E309A

Associated conditions / phenotypes

Fanconi anemia|Hereditary cancer-predisposing syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.