RGD:13483491 Rat Genome Database

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Variant: RGD:13483491 -  Homo sapiens

RGD ID: 13483491
RS ID: rs1554258777
ClinVar ID: CV455175
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRDN  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 123,892,066
GRCh38 6 123,570,921
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256020.2:c.232+2T>A
NG_030438.1:g.71173T>A
NC_000006.12:g.123570921A>T
NC_000006.11:g.123892066A>T
More... 		05/27/2022 splice donor variant pathogenic|likely pathogenic Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRDN
Accession:NM_001256022
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001256020
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001256021
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001407315
Location:INTRON

Gene Symbol:TRDN
Accession:NM_006073
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001251987
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22422768   PMID:25922419   PMID:26200674   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002526109 CLINVAR
dbSNP (RS) rs1554258777 CLINVAR
MedGen C1631597 CLINVAR
NCBI Gene TRDN CLINVAR
OMIM 603283 CLINVAR
  604772 CLINVAR