CA8 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CA8 (HGNC:1382) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- carbonic anhydrase 8
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CALS
- Alias symbols
- CARP
- %HI
- 10.02(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.23(Read more about gnomAD pLI score)
- LOEUF
- 0.7(Read more about gnomAD LOEUF score)
- Cytoband
- 8q12.1
- Genomic Coordinates
-
GRCh37/hg19: chr8:61097971-61193959 NCBI Ensembl UCSC GRCh38/hg38: chr8:60185412-60281400 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004056.6 ENST00000317995.5 (Read more about MANE Select)
- Function
- Does not have a carbonic anhydrase catalytic activity. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34417
ClinGen Curation ID:
CCID:006773
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)