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Variant (rsID / SNP)

rs117125761

FANCI

rs117125761 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,828,441. 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
15:89828441
Cytoband
15q26.1
HGVS
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
Allele change
Missense_L605F

Associated conditions / phenotypes

Fanconi anemia complementation group A|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.