RGD:40887935 Rat Genome Database

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Variant: RGD:40887935 -  Homo sapiens

RGD ID: 40887935
RS ID: rs1841240415
ClinVar ID: CV972836
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,427,611
GRCh38 9 127,665,332
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.663+1G>C
NC_000009.12:g.127665332G>C
NC_000009.11:g.130427611G>C
NM_001374312.2:c.621+1G>C
More... 		10/02/2021 splice donor variant 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_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374315
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001265151 CLINVAR
  RCV001775165 CLINVAR
dbSNP (RS) rs1841240415 CLINVAR
MedGen C2677326 CLINVAR
  C5681523 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR
  612164 CLINVAR