RGD:28879552 Rat Genome Database

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Variant: RGD:28879552 -  Homo sapiens

RGD ID: 28879552
RS ID: rs74954894
ClinVar ID: CV888844
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 38,590,398
GRCh38 3 38,548,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001099404.2:c.*1414G>C
NM_001160160.2:c.*1414G>C
NG_008934.1:g.105766G>C
LRG_289t1:c.*1414G>C
More... 		03/14/2018 3 prime utr variant benign|likely benign|uncertain significance Cardiac conduction defect progressive; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; 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; 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

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_000335
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_001354701
Location:3UTRS;EXON

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

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

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

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

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149032 CLINVAR
  RCV001150541 CLINVAR
  RCV001150542 CLINVAR
  RCV001150543 CLINVAR
  RCV001150544 CLINVAR
  RCV001150545 CLINVAR
dbSNP (RS) rs74954894 CLINVAR
MedGen C1832680 CLINVAR
  C1837845 CLINVAR
  C1859062 CLINVAR
  C1879286 CLINVAR
  C2751898 CLINVAR
  C4551804 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 113900 CLINVAR
  600163 CLINVAR
  601144 CLINVAR
  601154 CLINVAR
  603829 CLINVAR
  603830 CLINVAR
  608567 CLINVAR