RGD:9688082 Rat Genome Database

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Variant: RGD:9688082 -  Homo sapiens

RGD ID: 9688082
RS ID: rs200656652
ClinVar ID: CV173782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 38,616,778
GRCh38 3 38,575,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_289:g.79386T>C
NG_008934.1:g.79386T>C
NC_000003.12:g.38575287A>G
NC_000003.11:g.38616778A>G
More...
10/29/2019 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; 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:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000151782 CLINVAR
  RCV000465098 CLINVAR
  RCV003764925 CLINVAR
dbSNP (RS) rs200656652 CLINVAR
MedGen C1142166 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR
  601144 CLINVAR
SNOMED CT 418818005 CLINVAR