NM_005159.5(ACTC1):c.455-7C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001500944.14
Allele description [Variation Report for NM_005159.5(ACTC1):c.455-7C>T]
NM_005159.5(ACTC1):c.455-7C>T
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
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LOC118360489 [Oncorhynchus keta]
LOC118360489 [Oncorhynchus keta]Gene ID:118360489Gene
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Major Histocompatibility Complex
Major Histocompatibility ComplexThe genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes...<br/>Year introduced: 1979MeSH
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Macrophage Activation
Macrophage ActivationThe process of altering the morphology and functional activity of macrophages so that they become avidly phagocytic. It is initiated by lymphokines, such as the macrophage act...<br/>Year introduced: 1982MeSH
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Opsonization
OpsonizationThe process of recognizing and targeting particles by binding with OPSONINS (e.g., IgM, C1 and IgG) for phagocytosis or for antibody-dependent cell cytotoxicity....<br/>Year introduced: 2022MeSH
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Last Updated: Oct 13, 2024