NM_001458.5(FLNC):c.636C>T (p.Asn212=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002209694.6
Allele description [Variation Report for NM_001458.5(FLNC):c.636C>T (p.Asn212=)]
NM_001458.5(FLNC):c.636C>T (p.Asn212=)
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
-
LOC18602856 [Theobroma cacao]
LOC18602856 [Theobroma cacao]Gene ID:18602856Gene
-
18602856[uid] AND (alive[prop]) (1)
Gene
-
cullin-associated NEDD8-dissociated protein 2 [Mus musculus]
cullin-associated NEDD8-dissociated protein 2 [Mus musculus]gi|254692880|ref|NP_080234.2|Protein
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Last Updated: Sep 29, 2024