RGD:34901094 Rat Genome Database

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Variant: RGD:34901094 -  Homo sapiens

RGD ID: 34901094
RS ID: rs535600394
ClinVar ID: CV915731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC110121269  SCN5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 38,621,001
GRCh38 3 38,579,510
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t1:c.3229-15C>T
NM_001160161.2:c.3228+1421C>T
NM_001099404.2:c.3229-15C>T
NM_001099405.2:c.3229-15C>T
More... 		10/13/2021 intron variant likely benign|uncertain significance 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_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407186
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 RCV001841135 CLINVAR
  RCV003770154 CLINVAR
dbSNP (RS) rs535600394 CLINVAR
MedGen C0003811 CLINVAR
  C3661900 CLINVAR
NCBI Gene 110121269 CLINVAR
  SCN5A CLINVAR
OMIM 600163 CLINVAR
SNOMED CT 698247007 CLINVAR