RGD:15098974 Rat Genome Database

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Variant: RGD:15098974 -  Homo sapiens

RGD ID: 15098974
RS ID: rs746604591
ClinVar ID: CV776642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 7,711,237
GRCh38 19 7,646,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127396.3:c.1443+7G>T
NM_006949.4:c.1452+7G>T
NM_001272034.2:c.1485+7G>T
NG_016709.1:g.14247G>T
More... 		12/31/2019 intron variant likely benign|conflicting interpretations of pathogenicity
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STXBP2
Accession:NM_001127396
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_006949
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_001272034
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:STXBP2
Accession:NM_001414484
Location:INTRON

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000936394 CLINVAR
  RCV003978102 CLINVAR
dbSNP (RS) rs746604591 CLINVAR
MedGen C2751293 CLINVAR
NCBI Gene STXBP2 CLINVAR
OMIM 601717 CLINVAR
  613101 CLINVAR