NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002825131.2
Allele description [Variation Report for NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)]
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
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
-
putative amino acid dehydrogenase with NAD(P)-binding domain and ferridoxin-like...
putative amino acid dehydrogenase with NAD(P)-binding domain and ferridoxin-like domain [Escherichia coli str. K-12 substr. MG1655]gi|16128292|gnl|REF_b0307|NP_414841 NP_414841.1|Protein
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AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mR...
AGENCOURT_87456637 NICHD_XGC_panc Xenopus laevis cDNA clone IMAGE:8734863 3', mRNA sequencegi|111601729|gnl|dbEST|40942470|gb| 024.1|Nucleotide
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Last Updated: Feb 28, 2024