WDR6 WD repeat domain 6
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 2 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 130 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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138 |
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6 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | Trm734 |
| MIM | 606031 OMIM |
| HGNC | HGNC:12758 HGNC |
| Ensembl | ENSG00000178252 Ensembl |
| AllianceGenome | HGNC:12758 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000448293.5 | hg38 | chr3 | 49,007,608 | 49,015,347 | 7,740 |
| ENST00000415265.6 | hg38 | chr3 | 49,007,396 | 49,015,425 | 8,030 |
| ENST00000608424.6 | hg38 | chr3 | 49,007,391 | 49,015,951 | 8,561 |
| ENST00000395474.7 | hg38 | chr3 | 49,007,062 | 49,015,953 | 8,892 |
| ENST00000610967.4 | hg38 | chr3 | 49,007,204 | 49,015,953 | 8,750 |
| ENST00000627177.1 | hg38 | chr3 | 49,007,432 | 49,011,527 | 4,096 |
| ENST00000395474.7 | hg19 | chr3 | 49,044,495 | 49,053,386 | 8,892 |
| ENST00000415265.6 | hg19 | chr3 | 49,044,829 | 49,052,858 | 8,030 |
| ENST00000448293.5 | hg19 | chr3 | 49,045,041 | 49,052,780 | 7,740 |
| ENST00000608424.6 | hg19 | chr3 | 49,044,824 | 49,053,384 | 8,561 |
| ENST00000610967.4 | hg19 | chr3 | 49,044,637 | 49,053,386 | 8,750 |
| ENST00000627177.1 | hg19 | chr3 | 49,044,865 | 49,048,960 | 4,096 |
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