RGD:401829033 Rat Genome Database

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Variant: RGD:401829033 -  Homo sapiens

RGD ID: 401829033
ClinVar ID: CV2668614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPART  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 36,886,374
GRCh38 13 36,312,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142294.2:c.1643-2A>G
NM_001142295.2:c.1643-2A>G
NC_000013.10:g.36886374T>C
NM_001142294.1:c.1643-2A>G
More... 		04/01/2023 splice acceptor variant likely pathogenic 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:INTRON

Gene Symbol:SPART
Accession:XM_005266314
Location:INTRON

Gene Symbol:SPART
Accession:NM_001142295
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266317
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266315
Location:INTRON

Gene Symbol:SPART
Accession:NM_015087
Location:INTRON

Gene Symbol:SPART
Accession:XM_005266313
Location:INTRON

Gene Symbol:SPART
Accession:XM_011535012
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430209
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430212
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430211
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430210
Location:INTRON

Gene Symbol:SPART
Accession:XM_047430213
Location:INTRON

Gene Symbol:SPART
Accession:XM_024449334
Location:INTRON

Gene Symbol:SPART
Accession:NM_001142296
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003326706 CLINVAR
MedGen C0393559 CLINVAR
NCBI Gene SPART CLINVAR
OMIM 275900 CLINVAR
  607111 CLINVAR
SNOMED CT 230264003 CLINVAR