Variant (rsID / SNP)

rs200717151

rs200717151 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM, FKBP3. Location: chromosome 14, position 45,605,413. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FANCMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:45605413
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)
Allele change: Missense_A60E

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.