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Variant (rsID / SNP)

rs191202700

FANCI

rs191202700 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,848,621. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCIConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:89848621
Cytoband
15q26.1
HGVS
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
Allele change
Missense_T1079M

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.