CSRP3 cysteine and glycine rich protein 3
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Likely pathogenic | 0 | 20 |
| Benign | 4 | 54 |
| Likely benign | 0 | 228 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| not provided | 0 | 4 |
| Uncertain significance | 0 | 490 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
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0 |
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270 |
![]() |
512 |
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12 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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 | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| 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
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| 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 | CLP |
| SYNONYM | CMD1M |
| SYNONYM | CMH12 |
| SYNONYM | CRP3 |
| SYNONYM | LMO4 |
| SYNONYM | MLP |
| MIM | 600824 OMIM |
| HGNC | HGNC:2472 HGNC |
| Ensembl | ENSG00000129170 Ensembl |
| AllianceGenome | HGNC:2472 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000265968.9 | hg38 | chr11 | 19,182,030 | 19,201,983 | 19,954 |
| ENST00000647990.1 | hg38 | chr11 | 19,182,164 | 19,201,976 | 19,813 |
| ENST00000533783.2 | hg38 | chr11 | 19,182,037 | 19,210,571 | 28,535 |
| ENST00000649235.1 | hg38 | chr11 | 19,182,413 | 19,201,981 | 19,569 |
| ENST00000648719.1 | hg38 | chr11 | 19,182,168 | 19,202,030 | 19,863 |
| ENST00000649842.1 | hg38 | chr11 | 19,182,415 | 19,201,989 | 19,575 |
| ENST00000265968.9 | hg19 | chr11 | 19,203,577 | 19,223,530 | 19,954 |
| ENST00000533783.2 | hg19 | chr11 | 19,203,584 | 19,232,118 | 28,535 |
| ENST00000647990.1 | hg19 | chr11 | 19,203,711 | 19,223,523 | 19,813 |
| ENST00000648719.1 | hg19 | chr11 | 19,203,715 | 19,223,577 | 19,863 |
| ENST00000649235.1 | hg19 | chr11 | 19,203,960 | 19,223,528 | 19,569 |
| ENST00000649842.1 | hg19 | chr11 | 19,203,962 | 19,223,536 | 19,575 |
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