ANO6 anoctamin 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 30 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 88 |
Likely benign | 0 | 170 |
Conflicting classifications of pathogenicity | 0 | 18 |
Uncertain significance | 0 | 168 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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56 |
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394 |
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12 |
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 | BDPLT7 |
SYNONYM | SCTS |
SYNONYM | TMEM16F |
MIM | 608663 OMIM |
HGNC | HGNC:25240 HGNC |
Ensembl | ENSG00000177119 Ensembl |
AllianceGenome | HGNC:25240 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000423947.7 | hg38 | chr12 | 45,216,085 | 45,431,782 | 215,698 |
ENST00000680498.1 | hg38 | chr12 | 45,216,095 | 45,432,312 | 216,218 |
ENST00000425752.6 | hg38 | chr12 | 45,216,020 | 45,440,404 | 224,385 |
ENST00000681156.1 | hg38 | chr12 | 45,216,150 | 45,432,312 | 216,163 |
ENST00000441606.2 | hg38 | chr12 | 45,292,683 | 45,432,351 | 139,669 |
ENST00000679426.1 | hg38 | chr12 | 45,292,677 | 45,432,319 | 139,643 |
ENST00000320560.13 | hg38 | chr12 | 45,216,095 | 45,432,349 | 216,255 |
ENST00000681817.1 | hg38 | chr12 | 45,216,322 | 45,432,319 | 215,998 |
ENST00000425752.6 | hg19 | chr12 | 45,609,803 | 45,834,187 | 224,385 |
ENST00000423947.7 | hg19 | chr12 | 45,609,868 | 45,825,565 | 215,698 |
ENST00000680498.1 | hg19 | chr12 | 45,609,878 | 45,826,095 | 216,218 |
ENST00000320560.13 | hg19 | chr12 | 45,609,878 | 45,826,132 | 216,255 |
ENST00000681156.1 | hg19 | chr12 | 45,609,933 | 45,826,095 | 216,163 |
ENST00000681817.1 | hg19 | chr12 | 45,610,105 | 45,826,102 | 215,998 |
ENST00000679426.1 | hg19 | chr12 | 45,686,460 | 45,826,102 | 139,643 |
ENST00000441606.2 | hg19 | chr12 | 45,686,466 | 45,826,134 | 139,669 |
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