KHSRP KH-type splicing regulatory protein
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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 | FBP2 |
| SYNONYM | FUBP2 |
| SYNONYM | KSRP |
| SYNONYM | p75 |
| MIM | 603445 OMIM |
| HGNC | HGNC:6316 HGNC |
| Ensembl | ENSG00000088247 Ensembl |
| AllianceGenome | HGNC:6316 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000398148.7 | hg38 | chr19 | 6,413,348 | 6,424,794 | 11,447 |
| ENST00000600480.2 | hg38 | chr19 | 6,413,102 | 6,424,811 | 11,710 |
| ENST00000600480.2 | hg19 | chr19 | 6,413,113 | 6,424,822 | 11,710 |
| ENST00000398148.7 | hg19 | chr19 | 6,413,359 | 6,424,805 | 11,447 |
| Key | Value |
|---|---|
| strand | - |
| start | 6,413,118 |
| Gene Symbol | KHSRP |
| Entrez GeneId | 8,570 |
| Chr Band | 19p13.3 |
| end | 6,424,821 |
| chr | chr19 |
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