NM_007126.5(VCP):c.1293C>T (p.Asp431=) AND Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001168927.4
Allele description [Variation Report for NM_007126.5(VCP):c.1293C>T (p.Asp431=)]
NM_007126.5(VCP):c.1293C>T (p.Asp431=)
Condition(s)
- 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
Assertion and evidence details
Last Updated: Aug 5, 2023