RGD:38486296 Rat Genome Database

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Variant: RGD:38486296 -  Homo sapiens

RGD ID: 38486296
RS ID: rs762304556
ClinVar ID: CV926170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,188,714
GRCh38 11 2,167,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000360.4:c.646G>A
NM_199293.3:c.727G>A
NM_199292.3:c.739G>A
NG_008128.1:g.9322G>A
More... 		08/19/2021 missense variant pathogenic|likely pathogenic Dystonia 5, Dopa-responsive type; Dystonia, Dopa-responsive, autosomal dominant; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; DYT-GCH1; DYT-TH; none provided; Segawa syndrome, autosomal dominant; Segawa syndrome, autosomal recessive; TH-deficient dopa-responsive dystonia; Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TH
Accession:NM_199292
Location:EXON

Gene Symbol:TH
Accession:NM_000360
Location:EXON

Gene Symbol:TH
Accession:NM_199293
Location:EXON

Gene Symbol:TH
Accession:XM_011520335
Location:EXON

Variant Samples
Additional References at PubMed
PMID:18554280   PMID:20056467   PMID:24753243   PMID:25741868   PMID:28087438   PMID:28492532   PMID:29405179   PMID:32185155  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001220234 CLINVAR
  RCV001353113 CLINVAR
  RCV003317458 CLINVAR
dbSNP (RS) rs762304556 CLINVAR
MedGen C1851920 CLINVAR
  C2673535 CLINVAR
  C3661900 CLINVAR
NCBI Gene TH CLINVAR
OMIM 128230 CLINVAR
  191290 CLINVAR
  605407 CLINVAR
SNOMED CT 715827001 CLINVAR