RGD:13485233 Rat Genome Database

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Variant: RGD:13485233 -  Homo sapiens

RGD ID: 13485233
RS ID: rs1057522982
ClinVar ID: CV458845
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,440,708
GRCh38 9 127,678,429
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003165.3:c.1360-2A>T
NC_000009.12:g.127678429A>T
NM_001374313.2:c.1360-2A>T
NG_016623.1:g.71223A>T
More... 		01/11/2017 splice acceptor variant likely pathogenic Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STXBP1
Accession:NM_001374315
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20887364   PMID:26384463   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000553132 CLINVAR
dbSNP (RS) rs1057522982 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR
SNOMED CT 230429005 CLINVAR