RGD:14705717 Rat Genome Database

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Variant: RGD:14705717 -  Homo sapiens

RGD ID: 14705717
RS ID: rs1298986609
ClinVar ID: CV651514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRDN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 123,702,536
GRCh38 6 123,381,391
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006073.4:c.1166-1G>A
NM_001251987.2:c.1169-1G>A
NG_030438.1:g.260703G>A
NC_000006.12:g.123381391C>T
More... 		08/12/2021 splice acceptor variant likely pathogenic|uncertain significance none provided; 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_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

Gene Symbol:TRDN
Accession:NM_001256022
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001256020
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:19403623   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002223945 CLINVAR
  RCV002332631 CLINVAR
  RCV002534684 CLINVAR
dbSNP (RS) rs1298986609 CLINVAR
MedGen C1631597 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TRDN CLINVAR
OMIM 603283 CLINVAR
  604772 CLINVAR