NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) AND Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000335262.14
Allele description [Variation Report for NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)]
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)
Condition(s)
- Name:
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7)
- Synonyms:
- AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED; Frontotemporal dementia, chromosome 3-linked; Amyotrophic lateral sclerosis 17; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010936; MedGen: C1833296; Orphanet: 275864; Orphanet: 282; Orphanet: 803; OMIM: 600795
Assertion and evidence details
Last Updated: Sep 29, 2024