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Variant (rsID / SNP)

rs149112292

FANCA

rs149112292 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,825,107. 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
16:89825107
Cytoband
16q24.3
HGVS
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
Allele change
Missense_D953E

Associated conditions / phenotypes

Fanconi anemia complementation group A|Fanconi anemia

Public references

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