DEFA4 defensin alpha 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
not provided | 1 | 0 |
Uncertain significance | 0 | 16 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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20 |
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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
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 |
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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 | DEF4 |
SYNONYM | HNP-4 |
SYNONYM | HP-4 |
SYNONYM | HP4 |
MIM | 601157 OMIM |
HGNC | HGNC:2763 HGNC |
Ensembl | ENSG00000164821 Ensembl |
AllianceGenome | HGNC:2763 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000297435.3 | hg38 | chr8 | 6,935,820 | 6,938,306 | 2,487 |
ENST00000297435.3 | hg19 | chr8 | 6,793,342 | 6,795,828 | 2,487 |
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