Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs55758861

FANCA

rs55758861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCA. Location: chromosome 16, position 89,816,263. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FANCABenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
16:89816263
Cytoband
16q24.3
HGVS
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)
Allele change
Synonymous_L1038L

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.