NM_005159.5(ACTC1):c.1107A>G (p.Pro369=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004007720.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)]
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Related DataSets for GEO Profiles (Select 59554078) (1)
GEO DataSets
-
Resident liver stem cell lines
Resident liver stem cell linesAccession: GDS3520GEO DataSets
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See more...Assertion and evidence details
Last Updated: May 7, 2024