NM_000257.4(MYH7):c.3085C>G (p.Gln1029Glu) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004009446.2
Allele description [Variation Report for NM_000257.4(MYH7):c.3085C>G (p.Gln1029Glu)]
NM_000257.4(MYH7):c.3085C>G (p.Gln1029Glu)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens phosphatidylinositol glycan anchor biosynthesis class A (PIGA), tra...
Homo sapiens phosphatidylinositol glycan anchor biosynthesis class A (PIGA), transcript variant 3, mRNAgi|299782545|ref|NM_020473.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024