NM_005159.5(ACTC1):c.1070T>G (p.Met357Arg) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004016465.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.1070T>G (p.Met357Arg)]
NM_005159.5(ACTC1):c.1070T>G (p.Met357Arg)
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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ql62d06.x1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:1876907 3', mRNA seque...
ql62d06.x1 Soares_NhHMPu_S1 Homo sapiens cDNA clone IMAGE:1876907 3', mRNA sequencegi|3895989|gnl|dbEST|2047054|gb|AI2 .1|Nucleotide
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Last Updated: May 7, 2024