RGD:15130829 Rat Genome Database

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Variant: RGD:15130829 -  Homo sapiens

RGD ID: 15130829
RS ID: rs1036726742
ClinVar ID: CV787922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TH  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,192,004
GRCh38 11 2,170,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199292.3:c.103-4C>A
NG_008128.1:g.6032C>A
NC_000011.10:g.2170774G>T
NC_000011.9:g.2192004G>T
More... 		12/31/2019 intron variant likely benign DYT-TH; 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_199293
Location:INTRON

Gene Symbol:TH
Accession:NM_000360
Location:INTRON

Gene Symbol:TH
Accession:NM_199292
Location:INTRON

Gene Symbol:TH
Accession:XM_011520335
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000981107 CLINVAR
dbSNP (RS) rs1036726742 CLINVAR
MedGen C2673535 CLINVAR
NCBI Gene TH CLINVAR
OMIM 191290 CLINVAR
  605407 CLINVAR
SNOMED CT 715827001 CLINVAR