CHST14 carbohydrate sulfotransferase 14
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 46 |
Likely pathogenic | 2 | 14 |
Benign | 0 | 10 |
Likely benign | 0 | 194 |
Conflicting classifications of pathogenicity | 0 | 18 |
no classification for the single variant | 0 | 4 |
Uncertain significance | 0 | 308 |
Ranking
ClinVar | |
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0 |
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0 |
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156 |
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388 |
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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
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 |
---|---|
SYNONYM | ATCS |
SYNONYM | D4ST1 |
SYNONYM | EDSMC1 |
SYNONYM | HNK1ST |
MIM | 608429 OMIM |
HGNC | HGNC:24464 HGNC |
Ensembl | ENSG00000169105 Ensembl |
AllianceGenome | HGNC:24464 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000306243.7 | hg38 | chr15 | 40,470,984 | 40,473,158 | 2,175 |
ENST00000559991.1 | hg38 | chr15 | 40,471,086 | 40,473,128 | 2,043 |
ENST00000306243.7 | hg19 | chr15 | 40,763,183 | 40,765,357 | 2,175 |
ENST00000559991.1 | hg19 | chr15 | 40,763,285 | 40,765,327 | 2,043 |
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