Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs149008055

FANCI

rs149008055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,817,534. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

FANCIConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89817534
Cytoband
15q26.1
HGVS
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
Allele change
Missense_S371G

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group I

Public references

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