RGD:13466403 Rat Genome Database

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Variant: RGD:13466403 -  Homo sapiens

RGD ID: 13466403
RS ID: rs765625177
ClinVar ID: CV470265
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 7,709,490
GRCh38 19 7,644,604
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_165:g.12500A>G
NG_016709.1:g.12500A>G
NC_000019.10:g.7644604A>G
NC_000019.9:g.7709490A>G
More... 		12/16/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:STXBP2
Accession:NM_001127396
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_001414484
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_006949
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_001272034
Location:INTRON

Gene Symbol:STXBP2
Accession:NR_073560
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000551019 CLINVAR
dbSNP (RS) rs765625177 CLINVAR
MedGen C2751293 CLINVAR
NCBI Gene STXBP2 CLINVAR
OMIM 601717 CLINVAR
  613101 CLINVAR