Variant (rsID / SNP)
rs121909335
rs121909335 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VCP. Location: chromosome 9, position 35,065,348. Clinical significance in the table: Pathogenic.
Reference-table entries
VCPPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:35065348
- Cytoband
- 9p13.3
- HGVS
- NM_007126.5(VCP):c.476G>A (p.Arg159His)
- Allele change
- Missense_R159H
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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.