NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) AND Dilated cardiomyopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256885.2
Allele description [Variation Report for NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)]
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
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Homologene neighbors for GEO Profiles (Select 87917404) (0)
GEO Profiles
-
Taxonomy Links for GEO Profiles (Select 87914391) (1)
Taxonomy
-
PTMA prothymosin alpha [Homo sapiens]
PTMA prothymosin alpha [Homo sapiens]Gene ID:5757Gene
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Gene Links for GEO Profiles (Select 87932657) (1)
Gene
-
Gene Links for GEO Profiles (Select 87919572) (1)
Gene
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Last Updated: Oct 8, 2024