NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000649135.8
Allele description [Variation Report for NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)]
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
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
-
Draba staintonii isolate L221 internal transcribed spacer 1, partial sequence; 5...
Draba staintonii isolate L221 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|94538063|gb|DQ467420.1|Nucleotide
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ST3GAL2 [Papio anubis]
ST3GAL2 [Papio anubis]Gene ID:101006642Gene
-
ELOVL1 [Papio anubis]
ELOVL1 [Papio anubis]Gene ID:101001930Gene
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Last Updated: May 1, 2024