RGD:11614318 Rat Genome Database

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Variant: RGD:11614318 -  Homo sapiens

RGD ID: 11614318
RS ID: rs9566108
ClinVar ID: CV336057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPART  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 36,920,504
GRCh38 13 36,346,367
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.36346367C>T
NC_000013.10:g.36920504C>T
NM_001142294.2:c.-2-10535G>A
NM_001142295.2:c.-3+215G>A
More... 		05/15/2021 5 prime utr variant benign|likely benign childhood <1 / 1 000 000 Autosomal recessive spastic paraplegia type 20; none provided; 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:5UTRS;EXON

Gene Symbol:SPART
Accession:XM_011535012
Location:5UTRS;EXON

Gene Symbol:SPART
Accession:XM_024449334
Location:5UTRS;EXON

Gene Symbol:SPART
Accession:NM_015087
Location:5UTRS;EXON

Gene Symbol:SPART
Accession:NM_001142296
Location:5UTRS;EXON

Gene Symbol:SPART
Accession:XM_047430213
Location:5UTRS;EXON

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

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:XR_007063671
Location:EXON;NON-CODING

Gene Symbol:SPART
Accession:XM_047430209
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430210
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266315
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430212
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266317
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275963 CLINVAR
  RCV001718635 CLINVAR
dbSNP (RS) rs9566108 CLINVAR
MedGen C0393559 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPG20 CLINVAR
OMIM 275900 CLINVAR
  607111 CLINVAR
SNOMED CT 230264003 CLINVAR