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Variant (rsID / SNP)

rs121909330

VCP

rs121909330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCP. Location: chromosome 9, position 35,065,361. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

VCPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:35065361
Cytoband
9p13.3
HGVS
NM_007126.5(VCP):c.463C>T (p.Arg155Cys)
Allele change
Missense_R155C

Associated conditions / phenotypes

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Public references

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