Variant (rsID / SNP)

rs139181400

rs139181400 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCI. Location: chromosome 15, position 89,804,933. 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: 15:89804933
Cytoband: 15q26.1
HGVS: NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)
Allele change: Missense_A136T

Associated conditions / phenotypes

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.