NM_001458.5(FLNC):c.5843-6dup AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003795690.1
Allele description [Variation Report for NM_001458.5(FLNC):c.5843-6dup]
NM_001458.5(FLNC):c.5843-6dup
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
-
MAG TPA_asm: Brevefilum sp. isolate SMAG_U7311, whole genome shotgun sequencing ...
MAG TPA_asm: Brevefilum sp. isolate SMAG_U7311, whole genome shotgun sequencing projectgi|2674604348|tpg|DATCSS000000000.1 SS010000000Nucleotide
-
MAG TPA_asm: Brevefilum sp. isolate CTOTU18497, whole genome shotgun sequencing ...
MAG TPA_asm: Brevefilum sp. isolate CTOTU18497, whole genome shotgun sequencing projectgi|2678056520|tpg|DAIMEQ000000000.1 EQ010000000Nucleotide
-
hypothetical protein [Cutibacterium acnes]
hypothetical protein [Cutibacterium acnes]gi|488487137|ref|WP_002530716.1|Protein
-
YafY family protein [Paenibacillus sp. JDR-2]
YafY family protein [Paenibacillus sp. JDR-2]gi|502362790|ref|WP_012772284.1|Protein
-
88224398[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Mar 5, 2024