RGD:14719794 Rat Genome Database

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Variant: RGD:14719794 -  Homo sapiens

RGD ID: 14719794
RS ID: rs1596714308
ClinVar ID: CV644608
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STX1B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 31,004,186
GRCh38 16 30,992,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.30992865C>T
NG_041829.1:g.22644G>A
NC_000016.9:g.31004186C>T
NP_443106.1:p.Gly275Arg
More... 		10/18/2018 missense 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:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPRAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTADIKKTAN
KVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTTNEELED
MLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDMAMLVESQGEMIDRIEYNVEHSVDYVERA
VSDTKKAVKYQSKARRKKIMIIICCVVLRVVLASSIGGTLGL*

Gene Symbol:STX1B
Accession:NM_052874
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKDRTQELRSAKDSDDEEEVVHVDRDHFMDEFFEQVEEIRGCIEKLSEDVEQVKKQHSAILAAPNPDEKTKQELEDLTAD
IKKTANKVRSKLKAIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMTEYNATQSKYRDRCKDRIQRQLEITGRTTT
NEELEDMLESGKLAIFTDDIKMDSQMTKQALNEIETRHNEIIKLETSIRELHDMFVDMAMLVESQGEMIDRIEYNVEHSV
DYVERAVSDTKKAVKYQSKARRKKIMIIICCVVLRVVLASSIGGTLGL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000812767 CLINVAR
dbSNP (RS) rs1596714308 CLINVAR
MedGen C4015395 CLINVAR
NCBI Gene STX1B CLINVAR
OMIM 601485 CLINVAR
  616172 CLINVAR