NM_000256.3(MYBPC3):c.1194del (p.Asn399fs) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001999735.4
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)]
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
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Enterococcus faecalis strain 4928STDY7071734, whole genome shotgun sequence
Enterococcus faecalis strain 4928STDY7071734, whole genome shotgun sequencegi|1706989069|ref|NZ_CABHAN01000003Nucleotide
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PREDICTED: Mus musculus CD46 antigen, complement regulatory protein (Cd46), tran...
PREDICTED: Mus musculus CD46 antigen, complement regulatory protein (Cd46), transcript variant X2, misc_RNAgi|1907067597|ref|XR_373888.5|Nucleotide
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Last Updated: Sep 29, 2024