CSAD cysteine sulfinic acid decarboxylase
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 6 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 54 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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64 |
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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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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 | CSD |
SYNONYM | PCAP |
MIM | 616569 OMIM |
HGNC | HGNC:18966 HGNC |
Ensembl | ENSG00000139631 Ensembl |
AllianceGenome | HGNC:18966 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000453446.6 | hg38 | chr12 | 53,158,511 | 53,180,646 | 22,136 |
ENST00000379846.5 | hg38 | chr12 | 53,157,694 | 53,180,596 | 22,903 |
ENST00000267085.8 | hg38 | chr12 | 53,157,663 | 53,180,596 | 22,934 |
ENST00000444623.6 | hg38 | chr12 | 53,157,663 | 53,180,925 | 23,263 |
ENST00000267085.8 | hg19 | chr12 | 53,551,447 | 53,574,380 | 22,934 |
ENST00000444623.6 | hg19 | chr12 | 53,551,447 | 53,574,709 | 23,263 |
ENST00000379846.5 | hg19 | chr12 | 53,551,478 | 53,574,380 | 22,903 |
ENST00000453446.6 | hg19 | chr12 | 53,552,295 | 53,574,430 | 22,136 |
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