NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003533796.1
Allele description [Variation Report for NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)]
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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BioProject Links for Nucleotide (Select 2462619201) (1)
BioProject
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serine hydrolase-like protein 2 isoform X2 [Homo sapiens]
serine hydrolase-like protein 2 isoform X2 [Homo sapiens]gi|2462584495|ref|XP_054181423.1|Protein
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PREDICTED: Homo sapiens BEN domain containing 4 (BEND4), transcript variant X1, ...
PREDICTED: Homo sapiens BEN domain containing 4 (BEND4), transcript variant X1, mRNAgi|2462597094|ref|XM_054349972.1|Nucleotide
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Last Updated: May 7, 2024