RGD:11591622 Rat Genome Database

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Variant: RGD:11591622 -  Homo sapiens

RGD ID: 11591622
RS ID: rs138968325
ClinVar ID: CV286927
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 32,382,148
GRCh38 2 32,157,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014946.4:c.*2583C>T
LRG_714t1:c.*2583C>T
LRG_714:g.98469C>T
NG_008730.1:g.98469C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign Familial spastic paraplegia autosomal dominant 2; Spastic paraplegia 4, autosomal dominant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPAST
Accession:NM_001363875
Location:3UTRS;EXON

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

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

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

Gene Symbol:SPAST
Accession:NM_001377959
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000330700 CLINVAR
dbSNP (RS) rs138968325 CLINVAR
MedGen C1866855 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 182601 CLINVAR
  604277 CLINVAR