NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000799722.6
Allele description
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Mus musculus
Mus musculusMPSS mouse transcriptome analysis projectBioProject
-
BioProject Links for GEO DataSets (Select 868) (1)
BioProject
-
AraC family transcriptional regulator [Burkholderia vietnamiensis]
AraC family transcriptional regulator [Burkholderia vietnamiensis]gi|1589069797|gb|TCT34284.1||gnl|WG Q|2785634044Protein
-
Profile neighbors for GEO Profiles (Select 49959177) (200)
GEO Profiles
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Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2JMedGen
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Last Updated: May 1, 2024