NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Dec 15, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758021.16
Allele description [Variation Report for NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)]
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
O-Acetylcyclocalopin A (50922)
GEO DataSets
-
Borreliella lanei strain DSM 17992 Ga0416728_15, whole genome shotgun sequence
Borreliella lanei strain DSM 17992 Ga0416728_15, whole genome shotgun sequencegi|1891890033|ref|NZ_JACHFC01000001 gnl|WGS:NZ_JACHFC01|Ga0416728_15Nucleotide
-
Chain A, Fusion protein Beta-2 adrenergic receptor/Lysozyme
Chain A, Fusion protein Beta-2 adrenergic receptor/Lysozymegi|317455410|pdb|3PDS|AProtein
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Last Updated: Sep 29, 2024