KCP kielin cysteine rich BMP regulator
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 20 |
| Uncertain significance | 0 | 190 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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210 |
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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
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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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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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| 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 | CRIM2 |
| SYNONYM | KCP1 |
| SYNONYM | NET67 |
| MIM | 609344 OMIM |
| HGNC | HGNC:17585 HGNC |
| Ensembl | ENSG00000135253 Ensembl |
| AllianceGenome | HGNC:17585 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000613019.4 | hg38 | chr7 | 128,876,940 | 128,910,719 | 33,780 |
| ENST00000610776.5 | hg38 | chr7 | 128,876,865 | 128,910,709 | 33,845 |
| ENST00000610776.5 | hg19 | chr7 | 128,516,919 | 128,550,763 | 33,845 |
| ENST00000613019.4 | hg19 | chr7 | 128,516,994 | 128,550,773 | 33,780 |
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