RGD:11648373 Rat Genome Database

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Variant: RGD:11648373 -  Homo sapiens

RGD ID: 11648373
RS ID: rs886050139
ClinVar ID: CV328011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPART  SPART-AS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 36,920,620
GRCh38 13 36,346,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001142295.2:c.-3+99T>G
NM_001142294.2:c.-2-10651T>G
NC_000013.11:g.36346483A>C
NR_045181.1:n.53A>C
More... 		06/14/2016 5 prime utr variant|intron variant uncertain significance childhood <1 / 1 000 000 Autosomal recessive spastic paraplegia type 20; Spastic paraparesis childhood-onset with distal muscle wasting; Spastic paraplegia 20; Spastic paraplegia autosomal recessive Troyer type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPART
Accession:NM_001142294
Location:5UTRS;INTRON

Gene Symbol:SPART
Accession:XM_005266314
Location:5UTRS;INTRON

Gene Symbol:SPART
Accession:NM_001142295
Location:5UTRS;INTRON

Gene Symbol:SPART
Accession:XM_047430211
Location:5UTRS;INTRON

Gene Symbol:SPART-AS1
Accession:NR_045181
Location:EXON;NON-CODING

Gene Symbol:SPART-AS1
Accession:NR_045180
Location:EXON;NON-CODING

Gene Symbol:SPART
Accession:XM_005266315
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430212
Location:INTRON

Gene Symbol:SPART
Accession:NM_001142296
Location:INTRON

Gene Symbol:SPART
Accession:XM_011535012
Location:INTRON

Gene Symbol:SPART
Accession:NM_015087
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430213
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266317
Location:INTRON

Gene Symbol:SPART
Accession:XM_024449334
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266313
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430210
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430209
Location:INTRON

Gene Symbol:SPART
Accession:XR_007063671
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000281619 CLINVAR
dbSNP (RS) rs886050139 CLINVAR
MedGen C0393559 CLINVAR
NCBI Gene SPG20 CLINVAR
  SPG20-AS1 CLINVAR
OMIM 275900 CLINVAR
  607111 CLINVAR
SNOMED CT 230264003 CLINVAR