RGD:13792279 Rat Genome Database

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Variant: RGD:13792279 -  Homo sapiens

RGD ID: 13792279
RS ID: rs1554923513
ClinVar ID: CV546421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,189,720
GRCh38 11 2,168,490
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008128.1:g.8316G>C
NC_000011.10:g.2168490C>G
NC_000011.9:g.2189720C>G
NM_000360.4:c.487+1G>C
More... 		03/26/2022 splice donor variant likely pathogenic 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_199292
Location:INTRON

Gene Symbol:TH
Accession:XM_011520335
Location:INTRON

Gene Symbol:TH
Accession:NM_199293
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:22264700   PMID:24753243   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000668510 CLINVAR
dbSNP (RS) rs1554923513 CLINVAR
MedGen C2673535 CLINVAR
NCBI Gene TH CLINVAR
OMIM 191290 CLINVAR
  605407 CLINVAR
SNOMED CT 715827001 CLINVAR