Full data view for gene SCN5A

Information The variants shown are described using the NM_198056.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 2 c.87G>A r.(?) p.(?) Unknown - benign g.38674712C>T - G87A - SCN5A_000889 data from Inherited Arrhythmias web site (variantchecker): G not found at position 281, found A instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Chen 2004 - - Germline - - - - - DNA SEQ - - Healthy/Control 15161528-? PubMed: Chen 2004 data from Inherited Arrhythmias web site - - China Han - - - - 1 Johan den Dunnen
-/. 2 c.87G>A r.(?) p.(?) Unknown - benign g.38674712C>T - G87A - SCN5A_000889 data from Inherited Arrhythmias web site (variantchecker): G not found at position 281, found A instead. Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Aydin 2005 - - Germline - - - - - DNA SEQ - - Healthy/Control 15599693-? PubMed: Aydin 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
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