RGD:13446319 Rat Genome Database

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Variant: RGD:13446319 -  Homo sapiens

RGD ID: 13446319
RS ID: rs372080941
ClinVar ID: CV438391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: THAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 42,694,358
GRCh38 8 42,839,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011837.1:g.9117A>G
NC_000008.11:g.42839215T>C
NC_000008.10:g.42694358T>C
NP_060575.1:p.Ile80Val
More... 		03/14/2023 intron variant conflicting interpretations of pathogenicity|uncertain significance DYT-THAP1; none provided; Torsion dystonia adult onset mixed type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:THAP1
Accession:NM_018105
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTKYSSICSEHFTPDCFKRECNNKLLKENAVPTV
FLCTEPHDKKEDLLEPQEQLPPPPLPPPVSQVDAAIGLLMPPLQTPVNLSVFCDHNYTVEDTMHQRKRIHQLEQQVEKLR
KKLKTAQQRCRRQERQLEKLKEVVHFQKEKDDVSERGYVILPNDYFEIVEVPA*

Gene Symbol:THAP1
Accession:NM_199003
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21847143   PMID:22377579   PMID:26087139   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000513563 CLINVAR
  RCV001159232 CLINVAR
dbSNP (RS) rs372080941 CLINVAR
MedGen C1414216 CLINVAR
  C3661900 CLINVAR
NCBI Gene THAP1 CLINVAR
OMIM 602629 CLINVAR
  609520 CLINVAR