NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852699.9
Allele description [Variation Report for NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)]
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)
Condition(s)
- Name:
- Restrictive cardiomyopathy
- Identifiers:
- MONDO: MONDO:0005201; MeSH: D002313; MedGen: C0007196; Human Phenotype Ontology: HP:0001723
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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Homo sapiens leukocyte specific transcript 1 (LST1), transcript variant 5, mRNA
Homo sapiens leukocyte specific transcript 1 (LST1), transcript variant 5, mRNAgi|45580735|ref|NM_205840.1|Nucleotide
-
Homo sapiens leukocyte specific transcript 1 (LST1), mRNA
Homo sapiens leukocyte specific transcript 1 (LST1), mRNAgi|6005740|ref|NM_007161.1|Nucleotide
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U exon, partial [Human adenovirus 2]
U exon, partial [Human adenovirus 2]gi|56160508|ref|AP_000189.1|Protein
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Last Updated: Oct 13, 2024