RGD:12741180 Rat Genome Database

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Variant: RGD:12741180 -  Homo sapiens

RGD ID: 12741180
RS ID: rs200706450
ClinVar ID: CV359711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRDN  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 123,703,291
GRCh38 6 123,382,146
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_030438.1:g.259948T>G
NC_000006.12:g.123382146A>C
NC_000006.11:g.123703291A>C
NP_006064.2:p.Asp379Glu
More...
05/18/2018 missense variant uncertain significance AllHighlyPenetrant; CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; Catecholaminergic polymorphic ventricular tachycardia 5; Stress-induced polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

Variant Details
Variant Transcripts
Gene Symbol:TRDN
Accession:NM_006073
Location:EXON

Gene Symbol:TRDN
Accession:NM_001251987
Location:EXON

Gene Symbol:TRDN
Accession:NM_001407315
Location:EXON

Gene Symbol:TRDN
Accession:NM_001256020
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001256021
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001256022
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000414327 CLINVAR
  RCV002450957 CLINVAR
  RCV002481282 CLINVAR
  RCV002521431 CLINVAR
dbSNP (RS) rs200706450 CLINVAR
MedGen C1631597 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene TRDN CLINVAR
OMIM 603283 CLINVAR
  604772 CLINVAR
  615441 CLINVAR