RGD:12836426 Rat Genome Database

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Variant: RGD:12836426 -  Homo sapiens

RGD ID: 12836426
RS ID: rs1057522202
ClinVar ID: CV370479
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 130,423,496
GRCh38 9 127,661,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374307.2:c.387+12T>C
NM_001374308.2:c.387+12T>C
NM_001374309.2:c.387+12T>C
NM_001374310.2:c.387+12T>C
More... 		02/23/2017 intron variant likely benign AllHighlyPenetrant; 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_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374315
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000423367 CLINVAR
  RCV003766296 CLINVAR
dbSNP (RS) rs1057522202 CLINVAR
MedGen C0393706 CLINVAR
  CN169374 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR
SNOMED CT 230429005 CLINVAR