NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001905573.6
Allele description [Variation Report for NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)]
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)
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
-
Sec71 [Drosophila sechellia]
Sec71 [Drosophila sechellia]Gene ID:6611195Gene
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Gm15214 AND (alive[prop]) (1)
Gene
-
Meconium
MeconiumThe thick green-to-black mucilaginous material found in the intestines of a full-term fetus. It consists of secretions of the INTESTINAL GLANDS; BILE PIGMENTS; FATTY ACIDS; AM...<br/>MeSH
-
CBWN6546.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8858623 5', mR...
CBWN6546.b1 NICHD_XGC_tropTe1 Xenopus tropicalis cDNA clone IMAGE:8858623 5', mRNA sequencegi|133787951|gnl|dbEST|45217555|gb| 595.1|Nucleotide
-
JGI_CAAK8185.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7658793 5'...
JGI_CAAK8185.fwd NIH_XGC_tropBrn3 Xenopus tropicalis cDNA clone IMAGE:7658793 5', mRNA sequencegi|58489740|gnl|dbEST|27537320|gb|C 14.1|Nucleotide
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Last Updated: Sep 29, 2024