RGD:21071840 Rat Genome Database

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Variant: RGD:21071840 -  Homo sapiens

RGD ID: 21071840
RS ID: rs1588317190
ClinVar ID: CV790839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,427,525
GRCh38 9 127,665,246
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.127665246G>A
NC_000009.11:g.130427525G>A
NM_001374306.2:c.570-1G>A
NM_001374314.1:c.579-1G>A
More... 		10/14/2022 splice acceptor variant pathogenic|likely pathogenic Early infantile epileptic encephalopathy 4; STXBP1-Related Epileptic Encephalopathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374315
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000988253 CLINVAR
dbSNP (RS) rs1588317190 CLINVAR
MedGen C2677326 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR
  612164 CLINVAR