ANO4 anoctamin 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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68 |
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2 |
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
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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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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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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 | TMEM16D |
MIM | 610111 OMIM |
HGNC | HGNC:23837 HGNC |
Ensembl | ENSG00000151572 Ensembl |
AllianceGenome | HGNC:23837 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000644049.1 | hg38 | chr12 | 100,717,526 | 101,128,287 | 410,762 |
ENST00000392979.7 | hg38 | chr12 | 100,794,807 | 101,128,641 | 333,835 |
ENST00000392977.8 | hg38 | chr12 | 100,794,776 | 101,128,629 | 333,854 |
ENST00000644049.1 | hg19 | chr12 | 101,111,304 | 101,522,065 | 410,762 |
ENST00000392977.8 | hg19 | chr12 | 101,188,554 | 101,522,407 | 333,854 |
ENST00000392979.7 | hg19 | chr12 | 101,188,585 | 101,522,419 | 333,835 |
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