RGD:13470915 Rat Genome Database

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Variant: RGD:13470915 -  Homo sapiens

RGD ID: 13470915
RS ID: rs1554806979
ClinVar ID: CV441275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SETX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 135,156,853
GRCh38 9 132,281,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_268:g.78520G>A
NC_000009.12:g.132281466C>T
LRG_268t1:c.6654+1G>A
NM_001351527.2:c.6654+1G>A
More... 		10/07/2016 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SETX
Accession:XM_011518405
Location:INTRON

Gene Symbol:SETX
Accession:XM_047423024
Location:INTRON

Gene Symbol:SETX
Accession:NM_015046
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518406
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518408
Location:INTRON

Gene Symbol:SETX
Accession:XM_047423025
Location:INTRON

Gene Symbol:SETX
Accession:NM_001351527
Location:INTRON

Gene Symbol:SETX
Accession:XM_047423023
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518404
Location:INTRON

Gene Symbol:SETX
Accession:NM_001351528
Location:INTRON

Gene Symbol:SETX
Accession:XM_005272172
Location:INTRON

Gene Symbol:SETX
Accession:XM_005272173
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518407
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518151 CLINVAR
dbSNP (RS) rs1554806979 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SETX CLINVAR
OMIM 608465 CLINVAR