RGD:152090379 Rat Genome Database

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Variant: RGD:152090379 -  Homo sapiens

RGD ID: 152090379
RS ID: rs1280337247
ClinVar ID: CV1563265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 38,662,323
GRCh38 3 38,620,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000335.5:c.611+11C>G
NM_001099404.2:c.611+11C>G
NM_001099405.2:c.611+11C>G
NM_001160160.2:c.611+11C>G
More... 		01/30/2021 intron variant likely benign none provided

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

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003773847 CLINVAR
dbSNP (RS) rs1280337247 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR