KDM5D lysine demethylase 5D
Clinical Significance
MGeND | ClinVar |
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Ranking
ClinVar | |
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Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 |
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SYNONYM | HY |
SYNONYM | HYA |
SYNONYM | JARID1D |
SYNONYM | SMCY |
MIM | 426000 OMIM |
HGNC | HGNC:11115 HGNC |
Ensembl | ENSG00000012817 Ensembl |
AllianceGenome | HGNC:11115 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000382806.6 | hg38 | chrY | 19,705,420 | 19,744,761 | 39,342 |
ENST00000317961.9 | hg38 | chrY | 19,703,865 | 19,744,726 | 40,862 |
ENST00000541639.5 | hg38 | chrY | 19,705,417 | 19,744,939 | 39,523 |
ENST00000317961.9 | hg19 | chrY | 21,865,751 | 21,906,612 | 40,862 |
ENST00000541639.5 | hg19 | chrY | 21,867,303 | 21,906,825 | 39,523 |
ENST00000382806.6 | hg19 | chrY | 21,867,306 | 21,906,647 | 39,342 |
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