CSH2 chorionic somatomammotropin hormone 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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38 |
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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 | CS-2 |
SYNONYM | CSB |
SYNONYM | GHB1 |
SYNONYM | PL |
SYNONYM | hCS-B |
MIM | 118820 OMIM |
HGNC | HGNC:2441 HGNC |
Ensembl | ENSG00000213218 Ensembl |
AllianceGenome | HGNC:2441 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000336844.9 | hg38 | chr17 | 63,872,012 | 63,873,766 | 1,755 |
ENST00000345366.8 | hg38 | chr17 | 63,872,012 | 63,873,729 | 1,718 |
ENST00000392886.7 | hg38 | chr17 | 63,872,016 | 63,873,677 | 1,662 |
ENST00000560142.5 | hg38 | chr17 | 63,872,012 | 63,873,766 | 1,755 |
ENST00000613718.3 | hg38 | chr17 | 63,872,015 | 63,873,676 | 1,662 |
ENST00000345366.8 | hg19 | chr17 | 61,949,372 | 61,951,089 | 1,718 |
ENST00000336844.9 | hg19 | chr17 | 61,949,372 | 61,951,126 | 1,755 |
ENST00000560142.5 | hg19 | chr17 | 61,949,372 | 61,951,126 | 1,755 |
ENST00000613718.3 | hg19 | chr17 | 61,949,375 | 61,951,036 | 1,662 |
ENST00000392886.7 | hg19 | chr17 | 61,949,376 | 61,951,037 | 1,662 |
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