NM_005159.5(ACTC1):c.498C>T (p.Pro166=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- 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:
- RCV004003092.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.498C>T (p.Pro166=)]
NM_005159.5(ACTC1):c.498C>T (p.Pro166=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Transcription initiation factor IIF, beta subunit [Arabidopsis thaliana]
Transcription initiation factor IIF, beta subunit [Arabidopsis thaliana]gi|334185929|ref|NP_190795.3|Protein
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024