NM_005159.5(ACTC1):c.108C>G (p.Ile36Met) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003794027.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)]
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
fd20c02.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2352098 3'...
fd20c02.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2352098 3', mRNA sequencegi|5039722|gnl|dbEST|2630642|gb|AI7 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024