RGD:11653262 Rat Genome Database

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Variant: RGD:11653262 -  Homo sapiens

RGD ID: 11653262
RS ID: rs886058466
ClinVar ID: CV294414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 38,691,076
GRCh38 3 38,649,585
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t1:c.-107G>A
LRG_289:g.5088G>A
NG_008934.1:g.5088G>A
NC_000003.12:g.38649585C>T
More... 		01/12/2018 5 prime utr variant uncertain significance Cardiac conduction defect progressive; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; Familial long QT syndrome; Heart block progressive familial type 1; HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block, progressive, type IA; Hereditary bundle branch system defect; PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; Right bundle branch block, ST segment elevation, and sudden death syndrome; Romano-Ward syndrome; SCN5A-Associated Dilated Cardiomyopathy; Sick sinus syndrome 1, autosomal recessive; SICK SINUS SYNDROME, CONGENITAL; SINUS BRADYCARDIA SYNDROME, FAMILIAL; SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE; SINUS RHYTHM, CONGENITAL ABSENCE OF; Ventricular fibrillation with prolonged QT interval

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001160161
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_000335
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_198056
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:5UTRS;EXON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310080 CLINVAR
  RCV000313647 CLINVAR
  RCV000336099 CLINVAR
  RCV000364924 CLINVAR
  RCV000368292 CLINVAR
  RCV000390736 CLINVAR
  RCV000391348 CLINVAR
dbSNP (RS) rs886058466 CLINVAR
MedGen C1141890 CLINVAR
  C1832680 CLINVAR
  C1837845 CLINVAR
  C1859062 CLINVAR
  C1879286 CLINVAR
  C2751898 CLINVAR
  C4551804 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 113900 CLINVAR
  192500 CLINVAR
  600163 CLINVAR
  601144 CLINVAR
  601154 CLINVAR
  603829 CLINVAR
  603830 CLINVAR
  608567 CLINVAR
SNOMED CT 442917000 CLINVAR