KMT5C lysine methyltransferase 5C
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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18 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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 |
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SYNONYM | SUV420H2 |
SYNONYM | Suv4-20h2 |
MIM | 613198 OMIM |
HGNC | HGNC:28405 HGNC |
Ensembl | ENSG00000133247 Ensembl |
AllianceGenome | HGNC:28405 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000630497.1 | hg38 | chr19 | 55,341,794 | 55,348,120 | 6,327 |
ENST00000255613.8 | hg38 | chr19 | 55,339,876 | 55,348,121 | 8,246 |
ENST00000255613.8 | hg19 | chr19 | 55,851,244 | 55,859,489 | 8,246 |
ENST00000630497.1 | hg19 | chr19 | 55,853,162 | 55,859,488 | 6,327 |
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