NM_005159.5(ACTC1):c.372C>G (p.Ile124Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001364576.9
Allele description [Variation Report for NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)]
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
LOC18610777 [Theobroma cacao]
LOC18610777 [Theobroma cacao]Gene ID:18610777Gene
-
18610777[uid] AND (alive[prop]) (1)
Gene
-
Homo sapiens cDNA clone IMAGE:9052685
Homo sapiens cDNA clone IMAGE:9052685gi|219520611|gb|BC144165.1|Nucleotide
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Last Updated: Sep 29, 2024