RGD:127242232 Rat Genome Database

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Variant: RGD:127242232 -  Homo sapiens

RGD ID: 127242232
RS ID: rs2125841157
ClinVar ID: CV1055338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 38,601,919
GRCh38 3 38,560,428
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.3802G>T
NM_000335.5:c.3961G>T
NP_001092874.1:p.Val1322Leu
NP_001092875.1:p.Val1322Leu
More... 		10/06/2020 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001407186
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003771222 CLINVAR
dbSNP (RS) rs2125841157 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR