SLC12A9 solute carrier family 12 member 9
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 98 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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104 |
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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
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | CCC6 |
SYNONYM | CIP1 |
SYNONYM | WO3.3 |
SYNONYM | hCCC6 |
MIM | 616861 OMIM |
HGNC | HGNC:17435 HGNC |
Ensembl | ENSG00000146828 Ensembl |
AllianceGenome | HGNC:17435 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000354161.8 | hg38 | chr7 | 100,852,713 | 100,867,010 | 14,298 |
ENST00000540482.5 | hg38 | chr7 | 100,852,719 | 100,865,538 | 12,820 |
ENST00000415287.5 | hg38 | chr7 | 100,852,737 | 100,865,535 | 12,799 |
ENST00000354161.8 | hg19 | chr7 | 100,450,335 | 100,464,632 | 14,298 |
ENST00000540482.5 | hg19 | chr7 | 100,450,341 | 100,463,160 | 12,820 |
ENST00000415287.5 | hg19 | chr7 | 100,450,359 | 100,463,157 | 12,799 |
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