LCA5
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LCA5 (HGNC:31923) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lebercilin LCA5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C6orf152
Alias symbols
No aliases found
%HI
45.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.88(Read more about gnomAD LOEUF score)
Cytoband
6q14.1
Genomic Coordinates
GRCh37/hg19: chr6:80194708-80247147 NCBI Ensembl UCSC
GRCh38/hg38: chr6:79484991-79538782 NCBI Ensembl UCSC
MANE Select Transcript
NM_001122769.3 ENST00000369846.9 (Read more about MANE Select)
Function
Involved in intraflagellar protein (IFT) transport in photoreceptor cilia. {ECO:0000250|UniProtKB:Q80ST9}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24210
ClinGen Curation ID:
CCID:007393
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_000006.11) (NC_000006.12)