NM_001458.5(FLNC):c.7780+15G>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002076463.6
Allele description [Variation Report for NM_001458.5(FLNC):c.7780+15G>C]
NM_001458.5(FLNC):c.7780+15G>C
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
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ANL_HP_G0205580.mRNA.1.CDS.1 [Saccharomyces cerevisiae]
ANL_HP_G0205580.mRNA.1.CDS.1 [Saccharomyces cerevisiae]gi|2481321511|emb|CAI6513168.1||gnl CASB|CAI6513168Protein
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Skiffia lermae isolate SlerA zic family member 1 (zic1) gene, partial cds
Skiffia lermae isolate SlerA zic family member 1 (zic1) gene, partial cdsgi|1578912631|gb|MK523210.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 120965946) (0)
GEO Profiles
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RecName: Full=Protein sel-1 homolog 3; AltName: Full=Suppressor of lin-12-like p...
RecName: Full=Protein sel-1 homolog 3; AltName: Full=Suppressor of lin-12-like protein 3; Short=Sel-1L3gi|172045726|sp|Q68CR1.2|SE1L3_HUMAProtein
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Gene Links for GEO Profiles (Select 120940756) (1)
Gene
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Last Updated: Sep 29, 2024