RGD:127286630 Rat Genome Database

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Variant: RGD:127286630 -  Homo sapiens

RGD ID: 127286630
RS ID: rs2125921164
ClinVar ID: CV1113974
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 38,662,472
GRCh38 3 38,620,981
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t1:c.483-10T>C
NM_000335.5:c.483-10T>C
NM_001099404.2:c.483-10T>C
NM_001099405.2:c.483-10T>C
More... 		07/25/2019 intron variant likely benign Cardiac rhythm disease; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Arrhythmia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001842044 CLINVAR
  RCV003657231 CLINVAR
dbSNP (RS) rs2125921164 CLINVAR
MedGen C0003811 CLINVAR
  C3661900 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR
SNOMED CT 698247007 CLINVAR