RGD:28881758 Rat Genome Database

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Variant: RGD:28881758 -  Homo sapiens

RGD ID: 28881758
RS ID: rs563055303
ClinVar ID: CV901925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APTX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 32,973,186
GRCh38 9 32,973,188
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195249.2:c.*310G>A
NM_001195250.2:c.*310G>A
NM_001195252.2:c.*310G>A
NM_001368995.1:c.*310G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Adult onset ataxia with oculomotor apraxia; 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_001195252
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

Gene Symbol:APTX
Accession:NM_001195248
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:NM_001368996
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

Gene Symbol:APTX
Accession:NM_001369000
Location:3UTRS;EXON

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

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

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

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

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

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

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

Gene Symbol:APTX
Accession:NR_160920
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_160928
Location:EXON;NON-CODING

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167722 CLINVAR
dbSNP (RS) rs563055303 CLINVAR
MedGen C1859598 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR