RGD:152112502 Rat Genome Database

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Variant: RGD:152112502 -  Homo sapiens

RGD ID: 152112502
RS ID: rs763460159
ClinVar ID: CV1573328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN5A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 38,671,784
GRCh38 3 38,630,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000335.5:c.392+18T>C
NM_001099404.2:c.392+18T>C
NM_001099405.2:c.392+18T>C
NM_001160160.2:c.392+18T>C
More... 		10/27/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SCN5A
Accession:NM_001407186
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQASKKLPDLYGNPPQELIGEPL
EDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPIRRAAVKILVHSYPLQLTPAEYPLGAHAGDVHVLPPPHLHS
SLGVRVALIPCWS*

Gene Symbol:SCN5A
Accession:NM_001099404
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001354701
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160160
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_000335
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001099405
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001160161
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407187
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_198056
Location:INTRON

Gene Symbol:SCN5A
Accession:NM_001407185
Location:INTRON

Gene Symbol:SCN5A
Accession:XM_011533991
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 RCV003657751 CLINVAR
dbSNP (RS) rs763460159 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCN5A CLINVAR
OMIM 600163 CLINVAR