• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PRCD (HGNC:32528) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
photoreceptor disc component
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RP36
%HI
64.9(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
1.58(Read more about gnomAD LOEUF score)
Cytoband
17q25.1
Genomic Coordinates
GRCh37/hg19: chr17:74523668-74541458 NCBI Ensembl UCSC
GRCh38/hg38: chr17:76527586-76553580 NCBI Ensembl UCSC
MANE Select Transcript
NM_001077620.3 ENST00000592014.6 (Read more about MANE Select)
Function
Involved in vision. {ECO:0000269|PubMed:16938425, ECO:0000269|PubMed:24992209}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32506
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:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)