RGD:126730066 Rat Genome Database

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Variant: RGD:126730066 -  Homo sapiens

RGD ID: 126730066
RS ID: rs2056572281
ClinVar ID: CV1032592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 31,004,446
GRCh38 16 30,993,125
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052874.5:c.786+5G>A
NC_000016.10:g.30993125C>T
NC_000016.9:g.31004446C>T
NG_041829.1:g.22384G>A
 09/14/2020 intron variant uncertain significance GEFS+, TYPE 9
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STX1B
Accession:XM_017022893
Location:INTRON

Gene Symbol:STX1B
Accession:NM_052874
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001349208 CLINVAR
dbSNP (RS) rs2056572281 CLINVAR
MedGen C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR