GDI1 GDP dissociation inhibitor 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 20 |
Likely benign | 0 | 52 |
Conflicting classifications of pathogenicity | 0 | 10 |
not provided | 6 | 0 |
Uncertain significance | 0 | 86 |
Ranking
ClinVar | |
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0 |
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0 |
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22 |
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144 |
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6 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | 1A |
SYNONYM | GDIL |
SYNONYM | MRX41 |
SYNONYM | MRX48 |
SYNONYM | OPHN2 |
SYNONYM | RABGD1A |
SYNONYM | RABGDIA |
SYNONYM | XAP-4 |
SYNONYM | XLID41 |
MIM | 300104 OMIM |
HGNC | HGNC:4226 HGNC |
Ensembl | ENSG00000203879 Ensembl |
AllianceGenome | HGNC:4226 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000447750.7 | hg38 | chrX | 154,437,154 | 154,443,467 | 6,314 |
ENST00000630693.2 | hg38 | chrX | 154,436,913 | 154,439,765 | 2,853 |
ENST00000630693.2 | hg19 | chrX | 153,665,259 | 153,668,112 | 2,854 |
ENST00000447750.7 | hg19 | chrX | 153,665,500 | 153,671,814 | 6,315 |
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