NM_000256.3(MYBPC3):c.1078A>G (p.Lys360Glu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004012859.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1078A>G (p.Lys360Glu)]
NM_000256.3(MYBPC3):c.1078A>G (p.Lys360Glu)
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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Homo sapiens solute carrier family 4, sodium bicarbonate transporter-like, membe...
Homo sapiens solute carrier family 4, sodium bicarbonate transporter-like, member 10, mRNA (cDNA clone IMAGE:4795552)gi|34192516|gb|BC036415.2|Nucleotide
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Last Updated: May 7, 2024