CSH1 chorionic somatomammotropin hormone 1
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 38 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
42 |
 |
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
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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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CS-1 |
| SYNONYM | CSA |
| SYNONYM | CSMT |
| SYNONYM | GHB3 |
| SYNONYM | PL |
| SYNONYM | hCS-1 |
| SYNONYM | hCS-A |
| MIM | 150200 OMIM |
| HGNC | HGNC:2440 HGNC |
| Ensembl | ENSG00000136488 Ensembl |
| AllianceGenome | HGNC:2440 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000610991.1 | hg38 | chr17 | 63,894,994 | 63,896,570 | 1,577 |
| ENST00000316193.13 | hg38 | chr17 | 63,894,918 | 63,896,574 | 1,657 |
| ENST00000329882.8 | hg38 | chr17 | 63,894,927 | 63,896,582 | 1,656 |
| ENST00000453363.7 | hg38 | chr17 | 63,894,909 | 63,896,661 | 1,753 |
| ENST00000453363.7 | hg19 | chr17 | 61,972,269 | 61,974,021 | 1,753 |
| ENST00000316193.13 | hg19 | chr17 | 61,972,278 | 61,973,934 | 1,657 |
| ENST00000329882.8 | hg19 | chr17 | 61,972,287 | 61,973,942 | 1,656 |
| ENST00000610991.1 | hg19 | chr17 | 61,972,354 | 61,973,930 | 1,577 |
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