KDM6B lysine demethylase 6B
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 38 |
Likely pathogenic | 0 | 130 |
Benign | 0 | 64 |
Likely benign | 0 | 240 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 26 | 0 |
Uncertain significance | 0 | 476 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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80 |
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714 |
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134 |
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 |
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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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Category | : |
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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 | JMJD3 |
SYNONYM | NEDCFSA |
SYNONYM | NEDSST |
MIM | 611577 OMIM |
HGNC | HGNC:29012 HGNC |
Ensembl | ENSG00000132510 Ensembl |
AllianceGenome | HGNC:29012 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000448097.7 | hg38 | chr17 | 7,834,217 | 7,854,796 | 20,580 |
ENST00000254846.9 | hg38 | chr17 | 7,839,904 | 7,854,796 | 14,893 |
ENST00000448097.7 | hg19 | chr17 | 7,737,535 | 7,758,114 | 20,580 |
ENST00000254846.9 | hg19 | chr17 | 7,743,222 | 7,758,114 | 14,893 |
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