NM_000335.5(SCN5A):c.1540G>T (p.Gly514Cys) AND Cardiac conduction defect, nonprogressive
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 22, 2001
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000009984.4
Allele description [Variation Report for NM_000335.5(SCN5A):c.1540G>T (p.Gly514Cys)]
NM_000335.5(SCN5A):c.1540G>T (p.Gly514Cys)
Condition(s)
- Name:
- Cardiac conduction defect, nonprogressive
- Identifiers:
- MedGen: C1861984
-
RecName: Full=Complement factor H-related protein 1; Short=FHR-1; AltName: Full=...
RecName: Full=Complement factor H-related protein 1; Short=FHR-1; AltName: Full=H factor-like protein 1; Short=FHL-1; Short=H-factor-like 1; AltName: Full=H36; Flags: Precursorgi|218512041|sp|Q03591.2|FHR1_HUMANProtein
-
hypothetical protein SSSM5_037 [Synechococcus phage S-SSM5]
hypothetical protein SSSM5_037 [Synechococcus phage S-SSM5]gi|326784406|ref|YP_004324640.1|Protein
-
MCE family protein [Paracoccus liaowanqingii]
MCE family protein [Paracoccus liaowanqingii]gi|1608348849|gb|QBX34927.1||gnl|PR 9051|E4191_09535Protein
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Last Updated: Jun 9, 2024