ANO7 anoctamin 7
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 159 |
Likely benign | 0 | 36 |
Uncertain significance | 0 | 172 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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6 |
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357 |
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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
[No Data.]
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 |
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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 | D-TMPP |
SYNONYM | DTMPP |
SYNONYM | IPCA-5 |
SYNONYM | IPCA5 |
SYNONYM | NGEP |
SYNONYM | PCANAP5 |
SYNONYM | PCANAP5L |
SYNONYM | TMEM16G |
MIM | 605096 OMIM |
HGNC | HGNC:31677 HGNC |
Ensembl | ENSG00000146205 Ensembl |
AllianceGenome | HGNC:31677 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000402430.8 | hg38 | chr2 | 241,188,612 | 241,223,357 | 34,746 |
ENST00000674324.2 | hg38 | chr2 | 241,188,677 | 241,225,976 | 37,300 |
ENST00000402530.8 | hg38 | chr2 | 241,188,677 | 241,196,168 | 7,492 |
ENST00000274979.12 | hg38 | chr2 | 241,188,509 | 241,225,376 | 36,868 |
ENST00000274979.12 | hg19 | chr2 | 242,127,924 | 242,164,791 | 36,868 |
ENST00000402430.8 | hg19 | chr2 | 242,128,027 | 242,162,772 | 34,746 |
ENST00000402530.8 | hg19 | chr2 | 242,128,092 | 242,135,583 | 7,492 |
ENST00000674324.2 | hg19 | chr2 | 242,128,092 | 242,165,391 | 37,300 |
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