NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000470975.18
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)]
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Chst10 protein, partial [Mus musculus]
Chst10 protein, partial [Mus musculus]gi|20071288|gb|AAH26960.1|Protein
-
Kneria cytochrome c oxidase subunit I (COX1) gene, complete cds; mitochondrial.
Kneria cytochrome c oxidase subunit I (COX1) gene, complete cds; mitochondrial.PopSet: 1934508593PopSet
-
LOC100007645 [Danio rerio]
LOC100007645 [Danio rerio]Gene ID:100007645Gene
-
NEB nebulin [Gallus gallus]
NEB nebulin [Gallus gallus]Gene ID:374027Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024