NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002531860.3
Allele description [Variation Report for NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)]
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
Distephanus nummulariifolius (0)
Nucleotide
-
Ictidomys tridecemlineatus isolate #75 contig097482, whole genome shotgun sequen...
Ictidomys tridecemlineatus isolate #75 contig097482, whole genome shotgun sequencegi|358132435|gb|AGTP01097482.1||gnl AGTP01|contig097482Nucleotide
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Last Updated: Sep 29, 2024