RGD:11600937 Rat Genome Database

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Variant: RGD:11600937 -  Homo sapiens

RGD ID: 11600937
RS ID: rs200209986
ClinVar ID: CV309220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124901940  LOC127459356  THAP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,698,158
GRCh38 8 42,843,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_199003.2:c.71+9C>A
NG_011837.1:g.5317C>A
NC_000008.11:g.42843015G>T
NC_000008.10:g.42698158G>T
More... 		12/31/2019 intron variant benign|likely benign AllHighlyPenetrant; DYT-THAP1; none provided; Torsion dystonia adult onset mixed type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124901940
Accession:XR_007060901
Location:EXON;NON-CODING

Gene Symbol:THAP1
Accession:NM_199003
Location:INTRON

Gene Symbol:THAP1
Accession:NM_018105
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20083799   PMID:21847143   PMID:24936516   PMID:26467025   PMID:27123488   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000517913 CLINVAR
  RCV000547637 CLINVAR
  RCV001529309 CLINVAR
dbSNP (RS) rs200209986 CLINVAR
MedGen C1414216 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene THAP1 CLINVAR
OMIM 602629 CLINVAR
  609520 CLINVAR