RGD:14742312 Rat Genome Database

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Variant: RGD:14742312 -  Homo sapiens

RGD ID: 14742312
RS ID: rs1573121844
ClinVar ID: CV659167
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPAST  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 32,341,300
GRCh38 2 32,116,231
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001377959.1:c.1002+19C>G
NM_001363823.2:c.1095+19C>G
NM_014946.4:c.1098+19C>G
NM_001363875.2:c.999+19C>G
More... 		04/03/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SPAST
Accession:NM_199436
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001377959
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363875
Location:INTRON

Gene Symbol:SPAST
Accession:NM_001363823
Location:INTRON

Gene Symbol:SPAST
Accession:NM_014946
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000841299 CLINVAR
dbSNP (RS) rs1573121844 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SPAST CLINVAR
OMIM 604277 CLINVAR