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Variant (rsID / SNP)

rs139235751

FANCA

rs139235751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,842,176. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89842176
Cytoband
16q24.3
HGVS
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
Allele change
Missense_C625S

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group A

Public references

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