RGD:11588280 Rat Genome Database

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Variant: RGD:11588280 -  Homo sapiens

RGD ID: 11588280
RS ID: rs45592631
ClinVar ID: CV290242
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: SCN5A  
Reference Nucleotide: -
Variant Nucleotide: CCCTCCTTTTTCCTACTCTCTTCTC
Position
Assembly Chr Position
GRCh37 3 38,589,666
GRCh38 3 38,548,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t1:c.*2145_*2146insGAGAAGAGAGTAGGAAAAAGGAGGG
NM_000335.5:c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1]
NC_000003.12:g.38548182_38548183insTTTTCCTACTCTCTTCTCCCCTCCT
NC_000003.11:g.38589673_38589674insTTTTCCTACTCTCTTCTCCCCTCCT
More... 		06/14/2016 3 prime utr variant likely benign Familial long QT syndrome; Idiopathic ventricular fibrillation, non Brugada type; Paroxysmal ventricular fibrillation; Romano-Ward syndrome; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS); Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001354701
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_198056
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_000335
Location:3UTRS;EXON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:3UTRS;EXON

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

Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000290096 CLINVAR
  RCV000301557 CLINVAR
  RCV000305537 CLINVAR
  RCV000341745 CLINVAR
  RCV000345293 CLINVAR
  RCV000390531 CLINVAR
  RCV000400043 CLINVAR
dbSNP (RS) rs45592631 CLINVAR
MedGen C0023976 CLINVAR
  C0037052 CLINVAR
  C0340493 CLINVAR
  C1141890 CLINVAR
  C1142166 CLINVAR
  CN230454 CLINVAR
  CN239310 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 192500 CLINVAR
  600163 CLINVAR
  601144 CLINVAR
SNOMED CT 233915000 CLINVAR
  36083008 CLINVAR
  418818005 CLINVAR
  442917000 CLINVAR
  9651007 CLINVAR