CABS1 calcium binding protein, spermatid associated 1
Information
- Symbol
- CABS1
- Type
- protein-coding
- Description
- calcium binding protein, spermatid associated 1
- Entrez Gene ID
- 85438
- Genome
- hg19
- Position
- chr4:71,200,698-71,202,833
- Genome
- hg38
- Position
- chr4:70,334,981-70,337,116
- MIM
- 618600 OMIM
- HGNC
- HGNC:30710 HGNC
- Ensembl
- ENSG00000145309 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 32 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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44 |
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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
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 |
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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 | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | C4orf35 |
SYNONYM | CLPH |
SYNONYM | NYD-SP26 |
MIM | 618600 OMIM |
HGNC | HGNC:30710 HGNC |
Ensembl | ENSG00000145309 Ensembl |
AllianceGenome | HGNC:30710 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000273936.6 | hg38 | chr4 | 70,334,981 | 70,337,116 | 2,136 |
ENST00000273936.6 | hg19 | chr4 | 71,200,698 | 71,202,833 | 2,136 |
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