ADCY6 adenylate cyclase 6
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 6 |
Benign | 0 | 58 |
Likely benign | 0 | 54 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 122 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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18 |
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216 |
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6 |
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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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 | AC6 |
SYNONYM | LCCS8 |
MIM | 600294 OMIM |
HGNC | HGNC:237 HGNC |
Ensembl | ENSG00000174233 Ensembl |
AllianceGenome | HGNC:237 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000357869.8 | hg38 | chr12 | 48,766,194 | 48,789,089 | 22,896 |
ENST00000307885.4 | hg38 | chr12 | 48,766,329 | 48,784,129 | 17,801 |
ENST00000550422.5 | hg38 | chr12 | 48,766,198 | 48,789,037 | 22,840 |
ENST00000357869.8 | hg19 | chr12 | 49,159,977 | 49,182,872 | 22,896 |
ENST00000550422.5 | hg19 | chr12 | 49,159,981 | 49,182,820 | 22,840 |
ENST00000307885.4 | hg19 | chr12 | 49,160,112 | 49,177,912 | 17,801 |
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