NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002610891.2
Allele description [Variation Report for NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)]
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
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
-
PREDICTED: Homo sapiens neural cell adhesion molecule 2 (NCAM2), transcript vari...
PREDICTED: Homo sapiens neural cell adhesion molecule 2 (NCAM2), transcript variant X5, mRNAgi|2462582594|ref|XM_054324519.1|Nucleotide
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txid1423[orgn] AND "strain p99 C06"[All Fields] (1)
PopSet
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Bacteria 16S ribosomal RNA gene, partial sequence.
Bacteria 16S ribosomal RNA gene, partial sequence.PopSet: 388829836PopSet
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Taxonomy Links for Gene (Select 28962) (1)
Taxonomy
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Last Updated: Feb 28, 2024