Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs191943709

FANCA

rs191943709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,825,025. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FANCAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89825025
Cytoband
16q24.3
HGVS
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)
Allele change
Missense_C981R

Associated conditions / phenotypes

Inborn genetic diseases|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.