NM_014043.4(CHMP2B):c.*1376G>C AND Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000294918.5
Allele description [Variation Report for NM_014043.4(CHMP2B):c.*1376G>C]
NM_014043.4(CHMP2B):c.*1376G>C
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
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Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 4, non-co...
Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 4, non-coding RNAgi|619329035|ref|NR_117084.1|Nucleotide
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LOC107645741 [Arachis ipaensis]
LOC107645741 [Arachis ipaensis]Gene ID:107645741Gene
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Last Updated: Dec 24, 2023