CDHR1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CDHR1 (HGNC:14550) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cadherin related family member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PCDH21
Alias symbols
KIAA1775, CORD15, RP65
%HI
54.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
10q23.1
Genomic Coordinates
GRCh37/hg19: chr10:85954293-85979377 NCBI Ensembl UCSC
GRCh38/hg38: chr10:84194537-84219621 NCBI Ensembl UCSC
MANE Select Transcript
NM_033100.4 ENST00000623527.4 (Read more about MANE Select)
Function
Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22879
ClinGen Curation ID:
CCID:006821
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
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:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)