RGD:11599984 Rat Genome Database

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Variant: RGD:11599984 -  Homo sapiens

RGD ID: 11599984
RS ID: rs770908697
ClinVar ID: CV308151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APTX  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 32,972,662
GRCh38 9 32,972,664
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369003.1:c.*834C>G
NM_001369004.1:c.*834C>G
NM_001370669.1:c.*834C>G
NM_001370670.1:c.*834C>G
More... 		06/14/2016 3 prime utr variant uncertain significance Ataxia with Oculomotor Apraxia; Ataxia-ocular apraxia-2; Ataxia-oculomotor apraxia 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APTX
Accession:NM_001195251
Location:3UTRS;EXON

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

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

Gene Symbol:APTX
Accession:NM_001368995
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_001369004
Location:3UTRS;EXON

Gene Symbol:APTX
Accession:NM_175069
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_001370669
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

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

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

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_160927
Location:EXON;NON-CODING

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

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000325267 CLINVAR
  RCV001844145 CLINVAR
dbSNP (RS) rs770908697 CLINVAR
MedGen C1853761 CLINVAR
  CN239212 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 606002 CLINVAR
  606350 CLINVAR