NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001086874.20
Allele description [Variation Report for NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)]
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), mRNA
Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), mRNAgi|40806204|ref|NM_003392.3|Nucleotide
-
Mus musculus bone morphogenetic protein 4 (Bmp4), transcript variant 1, mRNA
Mus musculus bone morphogenetic protein 4 (Bmp4), transcript variant 1, mRNAgi|939320323|ref|NM_007554.3|Nucleotide
-
Mus musculus neural cell adhesion molecule 1 (Ncam1), transcript variant 2, mRNA
Mus musculus neural cell adhesion molecule 1 (Ncam1), transcript variant 2, mRNAgi|2222724958|ref|NM_010875.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024