NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 11, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002477826.1
Allele description [Variation Report for NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)]
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
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
-
ATE1 arginyltransferase 1 [Homo sapiens]
ATE1 arginyltransferase 1 [Homo sapiens]Gene ID:11101Gene
-
11101[uid] AND (alive[prop]) (1)
Gene
-
SUCLG1 [Pan paniscus]
SUCLG1 [Pan paniscus]Gene ID:100985425Gene
-
HPSE [Pan paniscus]
HPSE [Pan paniscus]Gene ID:100996218Gene
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Last Updated: Sep 29, 2024