RGD:11641044 Rat Genome Database

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Variant: RGD:11641044 -  Homo sapiens

RGD ID: 11641044
RS ID: rs886042914
ClinVar ID: CV268903
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 32,341,286
GRCh38 2 32,116,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_714:g.57607G>T
NG_008730.1:g.57607G>T
NC_000002.12:g.32116217G>T
NC_000002.11:g.32341286G>T
More... 		11/18/2015 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SPAST
Accession:NM_001377959
Location:INTRON

Gene Symbol:SPAST
Accession:NM_014946
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363823
Location:INTRON

Gene Symbol:SPAST
Accession:NM_199436
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363875
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000349959 CLINVAR
dbSNP (RS) rs886042914 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 604277 CLINVAR