NM_007126.5(VCP):c.30T>A (p.Asp10Glu) AND Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198195.2
Allele description [Variation Report for NM_007126.5(VCP):c.30T>A (p.Asp10Glu)]
NM_007126.5(VCP):c.30T>A (p.Asp10Glu)
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
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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
-
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: Dec 17, 2022