• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CA12 (HGNC:1371) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
carbonic anhydrase 12
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
HsT18816
%HI
56.48(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.33(Read more about gnomAD LOEUF score)
Cytoband
15q22.2
Genomic Coordinates
GRCh37/hg19: chr15:63613577-63674045 NCBI Ensembl UCSC
GRCh38/hg38: chr15:63321378-63381846 NCBI Ensembl UCSC
MANE Select Transcript
NM_001218.5 ENST00000178638.8 (Read more about MANE Select)
Function
Reversible hydration of carbon dioxide. {ECO:0000269|PubMed:26911677}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-20556
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)