NM_004415.4(DSP):c.3759T>G (p.Ile1253Met) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001525367.2
Allele description [Variation Report for NM_004415.4(DSP):c.3759T>G (p.Ile1253Met)]
NM_004415.4(DSP):c.3759T>G (p.Ile1253Met)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
D-glycerate dehydrogenase [Agrobacterium salinitolerans]
D-glycerate dehydrogenase [Agrobacterium salinitolerans]gi|2324467007|gnl|PRJNA534391|CFBP5 3335|gb|UYZ07195.1|Protein
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Last Updated: Dec 24, 2023