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)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
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)