RGD:12893845 Rat Genome Database

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Variant: RGD:12893845 -  Homo sapiens

RGD ID: 12893845
RS ID: rs201912053
ClinVar ID: CV407687
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APTX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 32,989,766
GRCh38 9 32,989,768
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195254.2:c.124C>T
NM_001195251.2:c.124C>T
NR_160925.1:n.445C>T
p.Arg42X
More... 		06/17/2021 5 prime utr variant|nonsense pathogenic|likely pathogenic 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APTX
Accession:NM_001369004
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369003
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369002
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370673
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370669
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369006
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001370670
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001369005
Location:5UTRS;EXON

Gene Symbol:APTX
Accession:NM_001195249
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001195248
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001368997
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001368998
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001368996
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001368995
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_175069
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:APTX
Accession:NM_001195251
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:APTX
Accession:NM_001369001
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA
GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLK
AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI
EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001369000
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA
GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLK
AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI
EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001368999
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:APTX
Accession:NM_001195250
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA
GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLK
AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI
EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_175073
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG
SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH
ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001195254
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA
GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLK
AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI
EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:APTX
Accession:NM_001195252
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCS*QQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK
LQPGQVLHMESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGE
KVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPEL
LKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

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_036577
Location:EXON;NON-CODING

Gene Symbol:APTX
Accession:NR_160929
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_160921
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_160926
Location:EXON;NON-CODING

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

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

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

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:26467025   PMID:30609409  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000480449 CLINVAR
  RCV000616687 CLINVAR
dbSNP (RS) rs201912053 CLINVAR
MedGen C1859598 CLINVAR
  C3661900 CLINVAR
NCBI Gene APTX CLINVAR
OMIM 208920 CLINVAR
  606350 CLINVAR