RGD:12839816 Rat Genome Database

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Variant: RGD:12839816 -  Homo sapiens

RGD ID: 12839816
RS ID: rs1057520531
ClinVar ID: CV367482
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 38,597,927
GRCh38 3 38,556,436
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_289t1:c.4437+5G>A
LRG_289:g.98237G>A
NG_008934.1:g.98237G>A
NC_000003.12:g.38556436C>T
More... 		10/05/2022 intron variant likely pathogenic|uncertain significance 1-5 / 10 000 none provided; Right bundle branch block, ST segment elevation, and sudden death syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
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_001354701
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:19251209   PMID:21321465   PMID:25741868   PMID:28492532   PMID:29709244   PMID:33221895   PMID:35124229   PMID:36197721   PMID:36578016  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000429534 CLINVAR
  RCV000477868 CLINVAR
  RCV001256847 CLINVAR
  RCV002328929 CLINVAR
dbSNP (RS) rs1057520531 CLINVAR
MedGen C1859062 CLINVAR
  C3661900 CLINVAR
  C4551804 CLINVAR
  CN230736 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR
  601144 CLINVAR
  603830 CLINVAR