NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) AND Actin accumulation myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 9, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001052411.8
Allele description [Variation Report for NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys)]
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys)
Condition(s)
- Name:
- Actin accumulation myopathy (CMYO2A)
- Synonyms:
- Nemaline myopathy caused by mutation in the alpha-actin gene; CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; Myopathy, actin, congenital, with cores; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008070; MedGen: C3711389; OMIM: 161800
-
Human DNA sequence from clone RP11-307N16 on chromosome 13, complete sequence
Human DNA sequence from clone RP11-307N16 on chromosome 13, complete sequencegi|14787305|emb|AL359736.19|Nucleotide
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Last Updated: Sep 29, 2024