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Variant (rsID / SNP)

rs17885240

FANCGVCP

rs17885240 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FANCG, VCP. Location: chromosome 9, position 35,075,022. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FANCGConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:35075022
Cytoband
9p13.3
HGVS
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
Allele change
Missense_R513Q

Associated conditions / phenotypes

Fanconi anemia|Inclusion Body Myopathy, Dominant|Amyotrophic Lateral Sclerosis, Dominant|Fanconi anemia complementation group G

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.