RGD:12906687 Rat Genome Database

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Variant: RGD:12906687 -  Homo sapiens

RGD ID: 12906687
RS ID: rs181571822
ClinVar ID: CV415020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRDN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 123,577,023
GRCh38 6 123,255,878
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.386216G>A
NC_000006.12:g.123255878C>T
NC_000006.11:g.123577023C>T
NP_006064.2:p.Arg632Lys
More... 		12/18/2018 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; CARDIAC ARRHYTHMIA SYNDROME, WITH OR WITHOUT SKELETAL MUSCLE WEAKNESS; none provided; 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
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 632
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEITAEGNASTTTTVIDSKNGSVPKSPGKVLKRTVTEDIVTTFSSPAAWLLVIALIITWSAVAIVMFDLVDYKNFSASS
IAKIGSDPLKLVRDAMEETTDWIYGFFSLLSDIISSEDEEDDDGDEDTDKGEIDEPPLRKKEIHKDKTEKQEKPERKIQT
KVTHKEKEKGKEKVREKEKPEKKATHKEKIEKKEKPETKTLAKEQKKAKTAEKSEEKTKKEVKGGKQEKVKQTAAKVKEV
QKTPSKPKEKEDKEKAAVSKHEQKDQYAFCRYMIDIFVHGDLKPGQSPAIPPPLPTEQASRPTPASPALEEKEGEKKKAE
KKVTSETKKKEKEDIKKKSEKETAIDVEKKEPGKASETKQGTVKIAAQAAAKKDEKKEDSKKTKKPAEVEQPKGKKQEKK
EKHVEPAKSPKKEHSVPSDKQVKAKTERAKEEIGAVSIKKAVPGKKEEKTTKTVEQEIRKEKSGKTSSILKDKEPIKGKE
EKVPASLKEKEPETKKDEKMSKAGKEVKPKPPQLQGKKEEKPEPQIKKEAKPAISEKVQIHKQDIVKPEKTVSHGKPEEK
VLKQVKAVTIEKTAKPKPTKKAEHREREPPSIKTDKPKPTPKGTSEVTESGKKKTEISEKESKEKADMKHLKEEKVSTRK
ESLQLHNVTKAEKPARVSKDVEDVPASKKAKEGTEDVSPTKQKSPISFFQCVYLDGYNGYGFQFPFTPADRPGESSGQAN
SPGQKQQGQ*

Gene Symbol:TRDN
Accession:NM_001251987
Location:INTRON

Gene Symbol:TRDN
Accession:NM_001407315
Location:INTRON

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:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000489524 CLINVAR
  RCV000620324 CLINVAR
  RCV000766609 CLINVAR
  RCV001286021 CLINVAR
  RCV002526020 CLINVAR
dbSNP (RS) rs181571822 CLINVAR
MedGen C1631597 CLINVAR
  C3661900 CLINVAR
  C3809536 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene TRDN CLINVAR
OMIM 603283 CLINVAR
  604772 CLINVAR
  615441 CLINVAR