SMYD1 SET and MYND domain containing 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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84 |
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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
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 | BOP |
SYNONYM | KMT3D |
SYNONYM | ZMYND18 |
SYNONYM | ZMYND22 |
MIM | 606846 OMIM |
HGNC | HGNC:20986 HGNC |
Ensembl | ENSG00000115593 Ensembl |
AllianceGenome | HGNC:20986 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000438570.1 | hg38 | chr2 | 88,067,862 | 88,112,484 | 44,623 |
ENST00000444564.2 | hg38 | chr2 | 88,067,825 | 88,110,854 | 43,030 |
ENST00000419482.7 | hg38 | chr2 | 88,067,825 | 88,113,384 | 45,560 |
ENST00000444564.2 | hg19 | chr2 | 88,367,344 | 88,410,373 | 43,030 |
ENST00000419482.7 | hg19 | chr2 | 88,367,344 | 88,412,903 | 45,560 |
ENST00000438570.1 | hg19 | chr2 | 88,367,381 | 88,412,003 | 44,623 |
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