RGD:28887468 Rat Genome Database

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Variant: RGD:28887468 -  Homo sapiens

RGD ID: 28887468
RS ID: rs1589593075
ClinVar ID: CV901217
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SETX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 135,137,639
GRCh38 9 132,262,252
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351528.2:c.*1987T>C
NM_015046.7:c.*1987T>C
LRG_268:g.97734T>C
NC_000009.12:g.132262252A>G
More... 		01/12/2018 3 prime utr variant uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; Ataxia with Oculomotor Apraxia; Ataxia-ocular apraxia-2; Ataxia-oculomotor apraxia 2; NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SETX
Accession:XM_005272173
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:XM_047423023
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:NM_015046
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:NM_001351528
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:XM_011518405
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:XM_011518404
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:XM_005272172
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:NM_001351527
Location:3UTRS;EXON

Gene Symbol:SETX
Accession:XM_047423025
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518406
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518407
Location:INTRON

Gene Symbol:SETX
Accession:XM_011518408
Location:INTRON

Gene Symbol:SETX
Accession:XM_047423024
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001169347 CLINVAR
  RCV001169348 CLINVAR
dbSNP (RS) rs1589593075 CLINVAR
MedGen C1853761 CLINVAR
  C1865409 CLINVAR
NCBI Gene SETX CLINVAR
OMIM 602433 CLINVAR
  606002 CLINVAR
  608465 CLINVAR