CAMSAP3 calmodulin regulated spectrin associated protein family member 3
Information
- Symbol
- CAMSAP3
- Type
- protein-coding
- Description
- calmodulin regulated spectrin associated protein family member 3
- Entrez Gene ID
- 57662
- Genome
- hg19
- Position
- chr19:7,660,788-7,683,190
- Genome
- hg38
- Position
- chr19:7,595,902-7,618,304
- MIM
- 612685 OMIM
- HGNC
- HGNC:29307 HGNC
- Ensembl
- ENSG00000076826 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 132 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
150 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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
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| 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 | KIAA1543 |
| SYNONYM | NEZHA |
| SYNONYM | PPP1R80 |
| MIM | 612685 OMIM |
| HGNC | HGNC:29307 HGNC |
| Ensembl | ENSG00000076826 Ensembl |
| AllianceGenome | HGNC:29307 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000446248.4 | hg38 | chr19 | 7,595,902 | 7,618,304 | 22,403 |
| ENST00000160298.9 | hg38 | chr19 | 7,595,863 | 7,618,304 | 22,442 |
| ENST00000160298.9 | hg19 | chr19 | 7,660,749 | 7,683,190 | 22,442 |
| ENST00000446248.4 | hg19 | chr19 | 7,660,788 | 7,683,190 | 22,403 |
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