RGD:10398399 Rat Genome Database

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Variant: RGD:10398399 -  Homo sapiens

RGD ID: 10398399
RS ID: rs796053364
ClinVar ID: CV202305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STXBP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,435,459
GRCh38 9 127,673,180
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.65974G>T
NC_000009.12:g.127673180G>T
NC_000009.11:g.130435459G>T
NM_001374307.2:c.988-1G>T
More... 		01/28/2014 splice acceptor variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:STXBP1
Accession:NM_003165
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374308
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374307
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374314
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001032221
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374313
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374311
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374312
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374310
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374315
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374306
Location:INTRON

Gene Symbol:STXBP1
Accession:NM_001374309
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000189609 CLINVAR
dbSNP (RS) rs796053364 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene STXBP1 CLINVAR
OMIM 602926 CLINVAR