ANO3 anoctamin 3
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 14 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 274 |
| Likely benign | 0 | 320 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| Uncertain significance | 0 | 412 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
146 |
 |
852 |
 |
10 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | C11orf25 |
| SYNONYM | DYT23 |
| SYNONYM | DYT24 |
| SYNONYM | GENX-3947 |
| SYNONYM | TMEM16C |
| MIM | 610110 OMIM |
| HGNC | HGNC:14004 HGNC |
| Ensembl | ENSG00000134343 Ensembl |
| AllianceGenome | HGNC:14004 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000531646.1 | hg38 | chr11 | 26,332,121 | 26,508,780 | 176,660 |
| ENST00000525139.5 | hg38 | chr11 | 26,309,599 | 26,660,680 | 351,082 |
| ENST00000256737.8 | hg38 | chr11 | 26,332,130 | 26,663,289 | 331,160 |
| ENST00000531568.1 | hg38 | chr11 | 26,473,902 | 26,660,820 | 186,919 |
| ENST00000672621.1 | hg38 | chr11 | 26,188,842 | 26,663,288 | 474,447 |
| ENST00000672621.1 | hg19 | chr11 | 26,210,389 | 26,684,835 | 474,447 |
| ENST00000525139.5 | hg19 | chr11 | 26,331,146 | 26,682,227 | 351,082 |
| ENST00000531646.1 | hg19 | chr11 | 26,353,668 | 26,530,327 | 176,660 |
| ENST00000256737.8 | hg19 | chr11 | 26,353,677 | 26,684,836 | 331,160 |
| ENST00000531568.1 | hg19 | chr11 | 26,495,449 | 26,682,367 | 186,919 |
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