RGD:13479644 Rat Genome Database

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Variant: RGD:13479644 -  Homo sapiens

RGD ID: 13479644
RS ID: rs1377226524
ClinVar ID: CV452577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 38,647,640
GRCh38 3 38,606,149
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t1:c.1141-1G>A
LRG_289:g.48524G>A
NG_008934.1:g.48524G>A
NC_000003.11:g.38647640C>T
More... 		03/17/2017 splice acceptor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NR_176299
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20129283   PMID:22789973   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003654420 CLINVAR
dbSNP (RS) rs1377226524 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR