Variant (rsID / SNP)

rs375656231

rs375656231 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,837,194. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FANCIPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:89837194
Cytoband: 15q26.1
HGVS: NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
Allele change: Nonsense_K808X

Associated conditions / phenotypes

Fanconi anemia complementation group I|Fanconi anemia

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.