GNB1L G protein subunit beta 1 like
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 26 |
Likely benign | 0 | 22 |
not provided | 14 | 0 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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10 |
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108 |
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0 |
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 | DGCRK3 |
SYNONYM | FKSG1 |
SYNONYM | GY2 |
SYNONYM | WDR14 |
SYNONYM | WDVCF |
MIM | 610778 OMIM |
HGNC | HGNC:4397 HGNC |
Ensembl | ENSG00000185838 Ensembl |
AllianceGenome | HGNC:4397 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000329517.11 | hg38 | chr22 | 19,783,223 | 19,854,874 | 71,652 |
ENST00000405009.5 | hg38 | chr22 | 19,788,418 | 19,854,939 | 66,522 |
ENST00000403325.5 | hg38 | chr22 | 19,788,415 | 19,854,843 | 66,429 |
ENST00000329517.11 | hg19 | chr22 | 19,770,746 | 19,842,397 | 71,652 |
ENST00000403325.5 | hg19 | chr22 | 19,775,938 | 19,842,366 | 66,429 |
ENST00000405009.5 | hg19 | chr22 | 19,775,941 | 19,842,462 | 66,522 |
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