NM_005159.5(ACTC1):c.489C>T (p.His163=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003783407.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.489C>T (p.His163=)]
NM_005159.5(ACTC1):c.489C>T (p.His163=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
mitochondrial arginine transporter BAC2 [Quercus suber]
mitochondrial arginine transporter BAC2 [Quercus suber]gi|1344063937|ref|XP_023915594.1|Protein
-
carboxy terminal-processing peptidase [Thalassomonas haliotis]
carboxy terminal-processing peptidase [Thalassomonas haliotis]gi|2445162992|gnl|PRJNA649149|H3N35 0|gb|WDE09783.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024