Variant (rsID / SNP)

rs118031800

rs118031800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,838,293. 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: 15:89838293
Cytoband: 15q26.1
HGVS: NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp)
Allele change: Missense_E868D

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.