NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003808263.2
Allele description [Variation Report for NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)]
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy 11
- Synonyms:
- Familial hypertrophic cardiomyopathy 11; ACTC1-Related Familial Hypertrophic Cardiomyopathy
- Identifiers:
- MONDO: MONDO:0012799; MedGen: C2677506; OMIM: 612098
-
qr22e06.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:1941634 3', mRNA sequence
qr22e06.x1 NCI_CGAP_GC6 Homo sapiens cDNA clone IMAGE:1941634 3', mRNA sequencegi|3764915|gnl|dbEST|1970001|gb|AI2 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024