Variant (rsID / SNP)

rs182154506

rs182154506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,844,659. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FANCIUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:89844659
Cytoband: 15q26.1
HGVS: NM_001113378.2(FANCI):c.2992C>T (p.Pro998Ser)
Allele change: Missense_P998S

Associated conditions / phenotypes

Fanconi anemia|Fanconi anemia complementation group I

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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