RGD:12893910 Rat Genome Database

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Variant: RGD:12893910 -  Homo sapiens

RGD ID: 12893910
RS ID: rs1064793976
ClinVar ID: CV405721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 32,379,442
GRCh38 2 32,154,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_714t1:c.1729-1G>A
LRG_714:g.95763G>A
NG_008730.1:g.95763G>A
NC_000002.12:g.32154373G>A
More... 		11/16/2018 splice acceptor variant pathogenic 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;INTRON

Gene Symbol:SPAST
Accession:NM_014946
Location:INTRON

Gene Symbol:SPAST
Accession:NM_199436
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363875
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363823
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:11843700   PMID:16240363   PMID:17100993   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000480764 CLINVAR
  RCV000794493 CLINVAR
dbSNP (RS) rs1064793976 CLINVAR
MedGen C1866855 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 182601 CLINVAR
  604277 CLINVAR