CA14 carbonic anhydrase 14
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 6 |
Uncertain significance | 0 | 38 |
Ranking
ClinVar | |
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0 |
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0 |
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48 |
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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.]
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Variants
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CAXiV |
MIM | 604832 OMIM |
HGNC | HGNC:1372 HGNC |
Ensembl | ENSG00000118298 Ensembl |
AllianceGenome | HGNC:1372 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000647854.1 | hg38 | chr1 | 150,257,251 | 150,265,049 | 7,799 |
ENST00000369111.9 | hg38 | chr1 | 150,257,774 | 150,265,078 | 7,305 |
ENST00000647854.1 | hg19 | chr1 | 150,229,646 | 150,237,449 | 7,804 |
ENST00000369111.9 | hg19 | chr1 | 150,230,169 | 150,237,478 | 7,310 |
Key | Value |
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strand | + |
start | 150,230,137 |
Gene Symbol | CA14 |
Entrez GeneId | 23,632 |
Chr Band | 1q21 |
end | 150,237,479 |
chr | chr1 |
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