CRYGC |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CRYGC (HGNC:2410) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- crystallin gamma C
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CRYG3
- Alias symbols
- No aliases found
- %HI
- 31.55(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.94(Read more about gnomAD LOEUF score)
- Cytoband
- 2q33.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:208992861-208994552 NCBI Ensembl UCSC GRCh38/hg38: chr2:208128137-208129828 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020989.4 ENST00000282141.4 (Read more about MANE Select)
- Function
- Crystallins are the dominant structural components of the vertebrate eye lens. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-11678
ClinGen Curation ID:
CCID:006940
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/22/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Heterozygous frameshift and nonsense mutations have been reported in families with autosomal dominant congenital cataracts, PMIDs: 10914683, 23508780, 23441109, 22876111, 19204787, 18618005. However, studies suggest that the truncated proteins these mutations result in are stable and lead to increased cytoplasmic localization and the accumulations of protein aggregates that produce scattering particles (Ren, PMID:10914683 and Talla, PMID:18421082). This indicates a gain of function as a cause of congenital cataracts. It is not clear that a whole gene deletion or mutation that results in loss of protein would have this same effect.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)