RGD:8596411 Rat Genome Database

Variant: RGD:8596411 - Homo sapiens

RGD ID:

8596411

RS ID:

rs121908131

ClinVar ID:

CV19465

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

APTX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	32,984,782
GRCh38	9	32,984,784

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
NC_000009.12:g.32984784G>A NC_000009.11:g.32984782G>A NP_778243.1:p.Pro206Leu NM_001369002.1:c.353C>T More...	11/06/2012	missense\|missense variant\|non-coding transcript variant	pathogenic	childhood	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

ataxia with oculomotor apraxia type 1 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	APTX
Accession:	NM_001195252
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	134

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGE KVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPEL LKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001368995
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001370670
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369001
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLK AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001368996
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001370673
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001195248
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001195249
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001368997
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369005
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369006
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:	APTX
Accession:	NM_175069
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:	APTX
Accession:	NM_001368998
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369000
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLK AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_175073
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCH ECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001195254
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLK AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369003
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001368999
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

Gene Symbol:	APTX
Accession:	NM_001195250
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEA GTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLK AVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVI EMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369002
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001369004
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001370669
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWS QGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRL GYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPS IPQLKEHLRKHWTQ*

Gene Symbol:	APTX
Accession:	NM_001195251
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVK LQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLLWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAG SSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQE*

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

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

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

Gene Symbol:	APTX
Accession:	NR_160926
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_160931
Location:	EXON;NON-CODING

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

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

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

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

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11586299	PMID:11586300

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000004676	CLINVAR
dbSNP (RS)	rs121908131	CLINVAR
MedGen	C1859598	CLINVAR
NCBI Gene	APTX	CLINVAR
OMIM	208920	CLINVAR
	606350	CLINVAR
OMIM Allele	606350.0002	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8596411 - Homo sapiens

Imported Disease Annotations - ClinVar