NM_001458.5(FLNC):c.675C>T (p.Ala225=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001393516.6
Allele description [Variation Report for NM_001458.5(FLNC):c.675C>T (p.Ala225=)]
NM_001458.5(FLNC):c.675C>T (p.Ala225=)
Condition(s)
- Name:
- Myofibrillar myopathy 5
- Synonyms:
- FILAMINOPATHY, AUTOSOMAL DOMINANT; Myofibrillar myopathy, filamin C-related; Filaminopathy (type)
- Identifiers:
- MONDO: MONDO:0012289; MedGen: C1836050; OMIM: 609524
- Name:
- Distal myopathy with posterior leg and anterior hand involvement
- Synonyms:
- WILLIAMS DISTAL MYOPATHY; Myopathy, distal, 4
- Identifiers:
- MONDO: MONDO:0013550; MedGen: C3279722; Orphanet: 63273; OMIM: 614065
- Name:
- Hypertrophic cardiomyopathy 26
- Synonyms:
- Cardiomyopathy, familial hypertrophic, 26
- Identifiers:
- MONDO: MONDO:0014883; MedGen: C4310749; Orphanet: 75249; OMIM: 617047
- Name:
- Dilated Cardiomyopathy, Dominant
- Identifiers:
- MedGen: CN239310
-
Rattus norvegicus tumor necrosis factor receptor superfamily, member 12a, mRNA (...
Rattus norvegicus tumor necrosis factor receptor superfamily, member 12a, mRNA (cDNA clone MGC:72653 IMAGE:6887545), complete cdsgi|38051924|gb|BC060537.1|Nucleotide
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Last Updated: May 1, 2024