RGD:11588047 Rat Genome Database

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Variant: RGD:11588047 -  Homo sapiens

RGD ID: 11588047
RS ID: rs575900032
ClinVar ID: CV286875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 32,380,941
GRCh38 2 32,155,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_714t1:c.*1376A>G
LRG_714:g.97262A>G
NG_008730.1:g.97262A>G
NC_000002.12:g.32155872A>G
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Familial spastic paraplegia autosomal dominant 2; none provided; Spastic paraplegia 4, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPAST
Accession:NM_001377959
Location:3UTRS;EXON

Gene Symbol:SPAST
Accession:NM_001363823
Location:3UTRS;EXON

Gene Symbol:SPAST
Accession:NM_199436
Location:3UTRS;EXON

Gene Symbol:SPAST
Accession:NM_001363875
Location:3UTRS;EXON

Gene Symbol:SPAST
Accession:NM_014946
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299753 CLINVAR
  RCV003422314 CLINVAR
dbSNP (RS) rs575900032 CLINVAR
MedGen C1866855 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 182601 CLINVAR
  604277 CLINVAR