ZNF408 zinc finger protein 408
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 6 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 28 |
Likely benign | 0 | 308 |
Conflicting classifications of pathogenicity | 0 | 14 |
Uncertain significance | 0 | 684 |
Ranking
ClinVar | |
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0 |
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0 |
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74 |
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946 |
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14 |
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
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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 |
Search Word
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 | EVR6 |
SYNONYM | RP72 |
MIM | 616454 OMIM |
HGNC | HGNC:20041 HGNC |
Ensembl | ENSG00000175213 Ensembl |
AllianceGenome | HGNC:20041 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000311764.3 | hg38 | chr11 | 46,701,031 | 46,705,912 | 4,882 |
ENST00000311764.3 | hg19 | chr11 | 46,722,581 | 46,727,462 | 4,882 |
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