RGD:13493951 Rat Genome Database

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Variant: RGD:13493951 -  Homo sapiens

RGD ID: 13493951
RS ID: rs201651366
ClinVar ID: CV451410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129660723  SPR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 73,115,466
GRCh38 2 72,888,337
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008234.1:g.5955G>C
NC_000002.12:g.72888337G>C
NC_000002.11:g.73115466G>C
NP_003115.1:p.Gly110Arg
More... 		01/13/2018 missense variant uncertain significance Dystonia; DYT-SPR; none provided; SPR deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SPR
Accession:NM_003124
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLL
GALRELPRPKGLQRLLLINNAGSLGDVSKRFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCA
LQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQK
LLSLLEKDEFKSGAHVDFYDK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000536033 CLINVAR
  RCV001142957 CLINVAR
  RCV002264953 CLINVAR
dbSNP (RS) rs201651366 CLINVAR
MedGen C0013421 CLINVAR
  C0268468 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPR CLINVAR
OMIM 182125 CLINVAR
  612716 CLINVAR
SNOMED CT 45116002 CLINVAR