EED embryonic ectoderm development
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 50 |
Likely benign | 0 | 58 |
Conflicting classifications of pathogenicity | 0 | 4 |
not provided | 9 | 0 |
Uncertain significance | 0 | 84 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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24 |
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176 |
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8 |
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 |
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 | COGIS |
SYNONYM | HEED |
SYNONYM | WAIT1 |
MIM | 605984 OMIM |
HGNC | HGNC:3188 HGNC |
Ensembl | ENSG00000074266 Ensembl |
AllianceGenome | HGNC:3188 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000707108.1 | hg38 | chr11 | 86,201,212 | 86,278,810 | 77,599 |
ENST00000351625.10 | hg38 | chr11 | 86,245,223 | 86,278,813 | 33,591 |
ENST00000527888.1 | hg38 | chr11 | 86,276,132 | 86,278,739 | 2,608 |
ENST00000263360.11 | hg38 | chr11 | 86,244,753 | 86,278,810 | 34,058 |
ENST00000327320.8 | hg38 | chr11 | 86,245,140 | 86,278,735 | 33,596 |
ENST00000672825.1 | hg38 | chr11 | 86,244,764 | 86,278,743 | 33,980 |
ENST00000528180.5 | hg38 | chr11 | 86,244,753 | 86,278,707 | 33,955 |
ENST00000673233.2 | hg38 | chr11 | 86,245,050 | 86,278,810 | 33,761 |
ENST00000707108.1 | hg19 | chr11 | 85,912,254 | 85,989,852 | 77,599 |
ENST00000528180.5 | hg19 | chr11 | 85,955,795 | 85,989,749 | 33,955 |
ENST00000263360.11 | hg19 | chr11 | 85,955,795 | 85,989,852 | 34,058 |
ENST00000672825.1 | hg19 | chr11 | 85,955,806 | 85,989,785 | 33,980 |
ENST00000673233.2 | hg19 | chr11 | 85,956,092 | 85,989,852 | 33,761 |
ENST00000327320.8 | hg19 | chr11 | 85,956,182 | 85,989,777 | 33,596 |
ENST00000351625.10 | hg19 | chr11 | 85,956,265 | 85,989,855 | 33,591 |
ENST00000527888.1 | hg19 | chr11 | 85,987,174 | 85,989,781 | 2,608 |
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