RGD:11607925 Rat Genome Database

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Variant: RGD:11607925 -  Homo sapiens

RGD ID: 11607925
RS ID: rs553638012
ClinVar ID: CV319423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPART  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 36,876,654
GRCh38 13 36,302,517
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
NC_000013.11:g.36302517T>G
NC_000013.10:g.36876654T>G
NM_001142294.2:c.*1848A>C
NM_015087.5:c.*1848A>C
More... 		06/14/2016 3 prime utr 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:XM_005266313
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_015087
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266315
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266317
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_005266314
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142295
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142296
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430212
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430213
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430209
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142294
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_024449334
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430210
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_011535012
Location:3UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430211
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000348816 CLINVAR
dbSNP (RS) rs553638012 CLINVAR
MedGen C0393559 CLINVAR
NCBI Gene SPG20 CLINVAR
OMIM 275900 CLINVAR
  607111 CLINVAR
SNOMED CT 230264003 CLINVAR