GCK glucokinase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 82 | 582 |
Likely pathogenic | 0 | 536 |
Benign | 0 | 154 |
Likely benign | 0 | 230 |
Conflicting classifications of pathogenicity | 0 | 258 |
Likely risk allele | 0 | 26 |
Uncertain risk allele | 0 | 44 |
Uncertain significance | 0 | 510 |
Ranking
ClinVar | |
---|---|
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0 |
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596 |
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438 |
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792 |
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12 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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Variants
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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 |
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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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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 | FGQTL3 |
SYNONYM | GK |
SYNONYM | GLK |
SYNONYM | HHF3 |
SYNONYM | HK4 |
SYNONYM | HKIV |
SYNONYM | HXKP |
SYNONYM | LGLK |
SYNONYM | MODY2 |
SYNONYM | PNDM1 |
MIM | 138079 OMIM |
HGNC | HGNC:4195 HGNC |
Ensembl | ENSG00000106633 Ensembl |
AllianceGenome | HGNC:4195 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000336642.9 | hg38 | chr7 | 44,144,275 | 44,146,144 | 1,870 |
ENST00000437084.1 | hg38 | chr7 | 44,145,132 | 44,188,987 | 43,856 |
ENST00000671824.1 | hg38 | chr7 | 44,144,334 | 44,189,439 | 45,106 |
ENST00000673284.1 | hg38 | chr7 | 44,143,213 | 44,189,439 | 46,227 |
ENST00000403799.8 | hg38 | chr7 | 44,144,275 | 44,189,439 | 45,165 |
ENST00000345378.7 | hg38 | chr7 | 44,144,275 | 44,159,282 | 15,008 |
ENST00000673284.1 | hg19 | chr7 | 44,182,812 | 44,229,038 | 46,227 |
ENST00000336642.9 | hg19 | chr7 | 44,183,874 | 44,185,743 | 1,870 |
ENST00000345378.7 | hg19 | chr7 | 44,183,874 | 44,198,881 | 15,008 |
ENST00000403799.8 | hg19 | chr7 | 44,183,874 | 44,229,038 | 45,165 |
ENST00000671824.1 | hg19 | chr7 | 44,183,933 | 44,229,038 | 45,106 |
ENST00000437084.1 | hg19 | chr7 | 44,184,731 | 44,228,586 | 43,856 |
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