RGD:38495689 Rat Genome Database

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Variant: RGD:38495689 -  Homo sapiens

RGD ID: 38495689
RS ID: rs1397228949
ClinVar ID: CV959985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TH  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,188,008
GRCh38 11 2,166,778
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.842-10C>A
NM_199293.3:c.923-10C>A
NM_199292.3:c.935-10C>A
NG_008128.1:g.10028C>A
More... 		11/04/2019 intron variant uncertain significance 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:XM_011520335
Location:INTRON

Gene Symbol:TH
Accession:NM_000360
Location:INTRON

Gene Symbol:TH
Accession:NM_199292
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001225883 CLINVAR
dbSNP (RS) rs1397228949 CLINVAR
MedGen C2673535 CLINVAR
NCBI Gene TH CLINVAR
OMIM 191290 CLINVAR
  605407 CLINVAR
SNOMED CT 715827001 CLINVAR