NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001183304.4
Allele description [Variation Report for NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)]
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
poly [ADP-ribose] polymerase 1 [Homo sapiens]
poly [ADP-ribose] polymerase 1 [Homo sapiens]gi|156523968|ref|NP_001609.2|Protein
-
AFUA_1G14170 [Aspergillus fumigatus Af293]
AFUA_1G14170 [Aspergillus fumigatus Af293]Gene ID:3509797Gene
-
NOSTRIN nitric oxide synthase trafficking [Homo sapiens]
NOSTRIN nitric oxide synthase trafficking [Homo sapiens]Gene ID:115677Gene
-
Gene Links for GEO Profiles (Select 87788548) (1)
Gene
-
Human hepatocytes from xenogeneic host livers
Human hepatocytes from xenogeneic host liversAccession: GDS4327GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024