NM_001458.5(FLNC):c.6998-9T>A AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002928378.3
Allele description [Variation Report for NM_001458.5(FLNC):c.6998-9T>A]
NM_001458.5(FLNC):c.6998-9T>A
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
-
Mus musculus histidine acid phosphatase domain containing 2A, mRNA (cDNA clone I...
Mus musculus histidine acid phosphatase domain containing 2A, mRNA (cDNA clone IMAGE:30547296), complete cdsgi|40675712|gb|BC065138.1|Nucleotide
-
Lysyl-tRNA synthetase family protein [Populus trichocarpa]
Lysyl-tRNA synthetase family protein [Populus trichocarpa]gi|566176847|ref|XP_006381783.1||gn _WGS:AARH|POPTR_0006s179701pProtein
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Last Updated: Sep 29, 2024