CRYBG1
protein-codingcrystallin beta-gamma domain containing 1, the group of Beta-gamma crystallin domain containing
Gene summary
Predicted to enable carbohydrate binding activity. [provided by Alliance of Genome Resources, Jul 2025]
- ST4
- AIM1
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~211.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to CRYBG1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001371242.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 6 | 11 | |||
| missense | 280 | 19 | 299 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 290 | 25 | 0 | 315 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001358171.1 | 22 | MANE Select | |
| Ensembl | ENSP00000488010.2 | 22 | MANE Select | |
| RefSeq | NP_001615.2 | 20 | Standard | |
| Ensembl | ENSP00000391419.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
Molecular Function
- molecular_function
- carbohydrate binding
Cellular Component
- cellular_component
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000369066
- Coding exons
- 20
- Length
- 58597
- Individuals with no LoFs
- 125199
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 548
- Defined
- 125748
- p
- 0.00219
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0567 | 929 | 924 | 1.01 | 0.0000460 | 11268 |
| Missense (PolyPhen) | 274 | 316.51 | 0.86569 | 4083 | ||
| Synonymous | -0.908 | 373 | 351 | 1.06 | 0.0000191 | 3349 |
| Loss of Function | 1.50 | 58 | 71.7 | 0.809 | 0.00000397 | 876 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0014 | 0.0014 | notable |
| Latino/Admixed American | 0.0017 | 0.0017 | notable |
| Ashkenazi Jewish | 0.0026 | 0.0026 | notable |
| East Asian | 0.0079 | 0.0079 | notable |
| Finnish | 0.00079 | 0.00079 | rare |
| European (Non-Finnish) | 0.0016 | 0.0015 | notable |
| South Asian | 0.0029 | 0.0029 | notable |
| Other | 0.0033 | 0.0031 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.;
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- RVIS EVS
- 2.11
- RVIS percentile EVS
- 97.91
Essentials
- Essential (gene trap)
- N