CHST11 carbohydrate sulfotransferase 11
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 12 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 30 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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40 |
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2 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 |
Search Word
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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Search word | : | |
Filtering | : |
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 | C4ST |
SYNONYM | C4ST-1 |
SYNONYM | C4ST1 |
SYNONYM | HSA269537 |
SYNONYM | OCBMD |
MIM | 610128 OMIM |
HGNC | HGNC:17422 HGNC |
Ensembl | ENSG00000171310 Ensembl |
AllianceGenome | HGNC:17422 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000546689.1 | hg38 | chr12 | 104,457,001 | 104,602,147 | 145,147 |
ENST00000549260.5 | hg38 | chr12 | 104,456,971 | 104,762,014 | 305,044 |
ENST00000547956.1 | hg38 | chr12 | 104,456,968 | 104,602,279 | 145,312 |
ENST00000303694.6 | hg38 | chr12 | 104,456,948 | 104,762,014 | 305,067 |
ENST00000303694.6 | hg19 | chr12 | 104,850,726 | 105,155,792 | 305,067 |
ENST00000547956.1 | hg19 | chr12 | 104,850,746 | 104,996,057 | 145,312 |
ENST00000549260.5 | hg19 | chr12 | 104,850,749 | 105,155,792 | 305,044 |
ENST00000546689.1 | hg19 | chr12 | 104,850,779 | 104,995,925 | 145,147 |
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