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Variant (rsID / SNP)

rs45537335

VCPFANCG

rs45537335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCP, FANCG. Location: chromosome 9, position 35,074,490. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

VCPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:35074490
Cytoband
9p13.3
HGVS
NM_004629.2(FANCG):c.1638T>C (p.Gly546=)
Allele change
Synonymous_G546G

Associated conditions / phenotypes

Inclusion Body Myopathy, Dominant|Fanconi anemia|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.