NM_014391.3(ANKRD1):c.881A>G (p.His294Arg) AND Primary dilated cardiomyopathy
- 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:
- RCV000408044.5
Allele description [Variation Report for NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)]
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
-
ankyrin repeat domain-containing protein 6 isoform X34 [Homo sapiens]
ankyrin repeat domain-containing protein 6 isoform X34 [Homo sapiens]gi|2462606999|ref|XP_054210698.1|Protein
-
Venous thrombosis, susceptibility to
Venous thrombosis, susceptibility toMedGen
-
C4016042[conceptid] (1)
MedGen
-
KIAA1434 protein [Homo sapiens]
KIAA1434 protein [Homo sapiens]gi|929654538|dbj|BAA92672.2|Protein
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|207008638|emb|CAR80228.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024