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Variant (rsID / SNP)

rs79685648

FANCI

rs79685648 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,843,559. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCIBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
15:89843559
Cytoband
15q26.1
HGVS
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser)
Allele change
Missense_R944S

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.