NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003748334.4
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val)]
NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Mouse DNA sequence from clone RP23-24C24 on chromosome 16, complete sequence
Mouse DNA sequence from clone RP23-24C24 on chromosome 16, complete sequencegi|77734787|emb|CT009577.5|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Jun 23, 2024