RGD:8693082 Rat Genome Database

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Variant: RGD:8693082 -  Homo sapiens

RGD ID: 8693082
RS ID: rs199827018
ClinVar ID: CV143047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,422,301
GRCh38 9 127,660,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016623.1:g.52816A>G
NC_000009.12:g.127660022A>G
NC_000009.11:g.130422301A>G
NM_003165.2:c.247-8A>G
More... 		12/02/2020 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 4; none provided; Ohtahara syndrome; STXBP1-Related Epileptic Encephalopathy

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

Gene Symbol:STXBP1
Accession:NM_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147703 CLINVAR
  RCV000233301 CLINVAR
  RCV000609695 CLINVAR
  RCV001705923 CLINVAR
dbSNP (RS) rs199827018 CLINVAR
MedGen C0393706 CLINVAR
  C2677326 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR
  612164 CLINVAR
SNOMED CT 230429005 CLINVAR