RGD:127256939 Rat Genome Database

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Variant: RGD:127256939 -  Homo sapiens

RGD ID: 127256939
RS ID: rs2143671063
ClinVar ID: CV1056311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX1B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 31,008,898
GRCh38 16 30,997,577
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.281-2A>C
NG_041829.1:g.17932A>C
NC_000016.10:g.30997577T>G
NC_000016.9:g.31008898T>G
More... 		03/30/2020 splice acceptor variant likely pathogenic 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:16199547   PMID:25362483   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001379658 CLINVAR
dbSNP (RS) rs2143671063 CLINVAR
MedGen C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR