RGD:11601976 Rat Genome Database

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Variant: RGD:11601976 -  Homo sapiens

RGD ID: 11601976
RS ID: rs545625482
ClinVar ID: CV318863
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APTX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 32,972,891
GRCh38 9 32,972,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.32972893C>T
NC_000009.11:g.32972891C>T
NM_001195254.2:c.*605G>A
NM_175073.3:c.*605G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Adult onset ataxia with oculomotor apraxia; Ataxia with Oculomotor Apraxia; Ataxia-ocular apraxia-2; Ataxia-oculomotor apraxia 2; Ataxia-oculomotor apraxia syndrome; Ataxia-oculomotor apraxia type 1; Ataxia-telangiectasia-like syndrome; Early-onset cerebellar ataxia with hypoalbuminemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APTX
Accession:NM_001369000
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369003
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369005
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370670
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001368998
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370673
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001368995
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001368997
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195252
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195248
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369002
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_175069
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369006
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370669
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_175073
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195251
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001368999
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369004
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195250
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001368996
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195254
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195249
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369001
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NR_036577
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160923
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160921
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160926
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160922
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160925
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160930
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160928
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160929
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160924
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160931
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160927
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160920
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286856 CLINVAR
  RCV001844147 CLINVAR
dbSNP (RS) rs545625482 CLINVAR
MedGen C1853761 CLINVAR
  C1859598 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606002 CLINVAR
  606350 CLINVAR