RGD:405867369 Rat Genome Database

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Variant: RGD:405867369 - Homo sapiens

RGD ID:

405867369

ClinVar ID:

CV3394326

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GLE1 LOC101929270

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	131,301,915
GRCh38	9	128,539,636

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	Trait Synonyms
LRG_484t1:c.1902G>A LRG_484t2:c.1902G>A NM_001003722.2:c.1902G>A NM_001499.2:c.1902G>A More...	01/10/2024	missense variant	uncertain significance	CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE; Lethal arthrogryposis with anterior horn cell disease

Disease Annotations Click to see Annotation Detail View

Congenital Arthrogryposis with Anterior Horn Cell Disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	GLE1
Accession:	NM_001499
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	634

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALD QPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRD LLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQC VLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKV EQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQYQVQ FWKMLILIKEDYFPRYQAC*

Gene Symbol:	GLE1
Accession:	XM_011518549
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	646

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIIPTLCEAEAGRVLEASSSWEPGLVSHTCNPSTLDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSAS ALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERK VQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLR KEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALRE MRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDAS MQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIADCRSLVFMAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTL NPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQ RMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEV CGNALIKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_024447519
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	637

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIIPTLCEAEAGRVLEASSSWEPGLVSHTCNPSTLDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSAS ALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERK VQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLR KEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALRE MRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDAS MQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQ YKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKD SKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQY QVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	NM_001411013
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	643

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALD QPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRD LLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQC VLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIADCRSLVFMAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQ GLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRML GYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGN ALIKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_047423236
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCRRRCCSSASSWMPLSSTKPCLRSTWLPSRPEATSCAASSQGSSGPLQSYPTAESQAEAERALREMRDLLMNLGQEIT RACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNS KDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEE EVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVEQQDNFLKRM SGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQYQVQFWKMLILIKE DYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_006717060
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	637

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIIPTLCEAEAGRVLEASSSWEPGLVSHTCNPSTLDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSAS ALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERK VQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLR KEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALRE MRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDAS MQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQ YKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKD SKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQY QVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_047423234
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	637

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIIPTLCEAEAGRVLEASSSWEPGLVSHTCNPSTLDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSAS ALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERK VQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLR KEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALRE MRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDAS MQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQ YKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKD SKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQY QVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_047423235
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	393

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLCRRRCCSSASSWMPLSSTKPCLRSTWLPSRPEATSCAASSQGSSGPLQSYPTAESQAEAERALREMRDLLMNLGQEIT RACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNS KDSQAKKIKMDLQKAATIPVSQISTIADCRSLVFMAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKLA EKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVE QQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQYQVQF WKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	NM_001003722
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	634

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSASALD QPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERKVQA LSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKEE GQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALREMRD LLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDASMQC VLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTLNPQGLDFVQYKL AEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKV EQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEVCGNALIKQYQVQ FWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	GLE1
Accession:	XM_011518550
Location:	EXON
Amino Acid Prediction:	M to I (nonsynonymous)
Amino Acid Position:	646

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIIPTLCEAEAGRVLEASSSWEPGLVSHTCNPSTLDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTSAS ALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLWQEEQERK VQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLR KEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSESSYPTAESQAEAERALRE MRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQNEDLQVKVQDITMQWYQQLQDAS MQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIADCRSLVFMAGSKLKEIFDKIHSLLSGKPVQSGGRSVSVTL NPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLHKKCPYSVPFYPTFKEGMALEDYQ RMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNHGWRWLAQILNMEPLSDVTATLLFDFLEV CGNALIKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFLEKCLQHKDIPVPKGFLTSSFWRS*

Gene Symbol:	LOC101929270
Accession:	NR_188457
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004566443	CLINVAR
MedGen	C5193016	CLINVAR
NCBI Gene	GLE1	CLINVAR
	LOC101929270	CLINVAR
OMIM	603371	CLINVAR
	611890	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:405867369 - Homo sapiens

Imported Disease Annotations - ClinVar