NM_001458.5(FLNC):c.2307G>A (p.Val769=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002489235.1
Allele description [Variation Report for NM_001458.5(FLNC):c.2307G>A (p.Val769=)]
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
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
-
THEM4 [Pan paniscus]
THEM4 [Pan paniscus]Gene ID:100981869Gene
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Last Updated: May 1, 2024