RGD:8603039 Rat Genome Database

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Variant: RGD:8603039 -  Homo sapiens

RGD ID: 8603039
RS ID: rs41312419
ClinVar ID: CV45419
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 38,628,879
GRCh38 3 38,587,388
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289t2:c.2436+12G>A
LRG_289:g.67285G>A
NG_008934.1:g.67285G>A
NC_000003.12:g.38587388C>T
More... 		03/02/2021 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Cardiac conduction defect progressive; Cardiomyopathies; 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; none provided; 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_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030437 CLINVAR
  RCV000041610 CLINVAR
  RCV000282195 CLINVAR
  RCV000302686 CLINVAR
  RCV000336094 CLINVAR
  RCV000337701 CLINVAR
  RCV000362031 CLINVAR
  RCV000393121 CLINVAR
  RCV000404199 CLINVAR
  RCV001529361 CLINVAR
dbSNP (RS) rs41312419 CLINVAR
MedGen C0878544 CLINVAR
  C1141890 CLINVAR
  C1832680 CLINVAR
  C1837845 CLINVAR
  C1859062 CLINVAR
  C1879286 CLINVAR
  C2751898 CLINVAR
  C3661900 CLINVAR
  C4551804 CLINVAR
  CN169374 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
  85898001 CLINVAR