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Variant (rsID / SNP)

rs139814895

FANCI

rs139814895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,835,937. 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
15:89835937
Cytoband
15q26.1
HGVS
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)
Allele change
Missense_I671V

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.