NM_007126.5(VCP):c.766C>G (p.Arg256Gly) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003883215.1
Allele description [Variation Report for NM_007126.5(VCP):c.766C>G (p.Arg256Gly)]
NM_007126.5(VCP):c.766C>G (p.Arg256Gly)
Condition(s)
- Name:
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
- Synonyms:
- MULTISYSTEM PROTEINOPATHY 1; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
- Identifiers:
- MONDO: MONDO:0008178; MedGen: C4551951; OMIM: 167320
- Name:
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6)
- Synonyms:
- Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; VCP-Related Amyotrophic Lateral Sclerosis; VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
- Identifiers:
- MONDO: MONDO:0013501; MedGen: C5436279; Orphanet: 275872; Orphanet: 803; OMIM: 613954
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Nucleotide Links for GEO Profiles (Select 65366688) (2)
Nucleotide
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Taxonomy Links for GEO Profiles (Select 65366688) (1)
Taxonomy
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OMIM Links for GEO Profiles (Select 65366688) (1)
OMIM
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PMC Links for GEO Profiles (Select 65366688) (44)
PMC
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Last Updated: Mar 10, 2024