NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002505400.8
Allele description [Variation Report for NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)]
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)
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
-
kin of IRRE-like protein 3 isoform X1 [Oncorhynchus gorbuscha]
kin of IRRE-like protein 3 isoform X1 [Oncorhynchus gorbuscha]gi|2186647020|ref|XP_046149959.1|Protein
-
LOC123992660 [Oncorhynchus gorbuscha]
LOC123992660 [Oncorhynchus gorbuscha]Gene ID:123992660Gene
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Last Updated: Oct 13, 2024