RGD:12739778 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:12739778 -  Homo sapiens

RGD ID: 12739778
RS ID: rs1057516819
ClinVar ID: CV357963
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,187,231
GRCh38 11 2,166,001
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008128.1:g.10805G>A
NC_000011.10:g.2166001C>T
NC_000011.9:g.2187231C>T
NM_000360.4:c.1104+1G>A
More...
05/03/2016 splice donor variant likely pathogenic infancy 1-9 / 1 000 000 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_000360
Location:INTRON

Gene Symbol:TH
Accession:NM_199293
Location:INTRON

Gene Symbol:TH
Accession:NM_199292
Location:INTRON

Gene Symbol:TH
Accession:XM_011520335
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000410415 CLINVAR
dbSNP (RS) rs1057516819 CLINVAR
MedGen C2673535 CLINVAR
NCBI Gene TH CLINVAR
OMIM 191290 CLINVAR
  605407 CLINVAR
SNOMED CT 715827001 CLINVAR