NM_001458.5(FLNC):c.7781-3C>T AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000649227.6
Allele description [Variation Report for NM_001458.5(FLNC):c.7781-3C>T]
NM_001458.5(FLNC):c.7781-3C>T
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
-
LOC105374433 [Homo sapiens]
LOC105374433 [Homo sapiens]Gene ID:105374433Gene
-
LOC105371970 [Homo sapiens]
LOC105371970 [Homo sapiens]Gene ID:105371970Gene
-
Fulvia fulva uncharacterized protein (CLAFUR5_01008), partial mRNA
Fulvia fulva uncharacterized protein (CLAFUR5_01008), partial mRNAgi|2234809199|ref|XM_047900156.1|Nucleotide
-
Fulvia fulva HBS1-like protein (CLAFUR5_00960), partial mRNA
Fulvia fulva HBS1-like protein (CLAFUR5_00960), partial mRNAgi|2234808995|ref|XM_047900108.1|Nucleotide
-
Fulvia fulva uncharacterized protein (CLAFUR5_01052), partial mRNA
Fulvia fulva uncharacterized protein (CLAFUR5_01052), partial mRNAgi|2234809420|ref|XM_047900200.1|Nucleotide
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Last Updated: Sep 29, 2024