Variant (rsID / SNP)

rs113986680

rs113986680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCM. Location: chromosome 14, position 45,654,467. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FANCMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:45654467
Cytoband: 14q21.2
HGVS: NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp)
Allele change: Missense_E1495D

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.