RGD:14746272 Rat Genome Database

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Variant: RGD:14746272 -  Homo sapiens

RGD ID: 14746272
RS ID: rs216540
ClinVar ID: CV659185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 32,353,188
GRCh38 2 32,128,119
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014946.3:c.1174-289T>C
NM_001363875.2:c.1075-289T>C
NM_001377959.1:c.1078-289T>C
NM_014946.4:c.1174-289T>C
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPAST
Accession:NM_001363823
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363875
Location:INTRON

Gene Symbol:SPAST
Accession:NM_199436
Location:INTRON

Gene Symbol:SPAST
Accession:NM_014946
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001377959
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000844263 CLINVAR
dbSNP (RS) rs216540 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 604277 CLINVAR