RGD:26886982 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:26886982 -  Homo sapiens

RGD ID: 26886982
RS ID: rs888787757
ClinVar ID: CV827999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 38,598,069
GRCh38 3 38,556,578
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001160161.2:c.4138T>G
NM_001099404.2:c.4300T>G
NM_198056.3:c.4300T>G
LRG_289t1:c.4300T>G
More...
10/28/2023 missense variant uncertain significance Cardiac rhythm disease; none provided; Sudden unexpected nocturnal death syndrome; Sudden Unexplained Death Syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
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_001407187
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 RCV001066394 CLINVAR
  RCV002282449 CLINVAR
  RCV003283952 CLINVAR
  RCV003591838 CLINVAR
dbSNP (RS) rs888787757 CLINVAR
MedGen C0003811 CLINVAR
  C1142166 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
  CN517202 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR
  698247007 CLINVAR