GGTA1
Basic information
Region (hg38): 9:121444991-121499844
Previous symbols: [ "GLYT2", "GGTA", "GGTA1P" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GGTA1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
Haploinsufficiency Scores
- pHI
- 0.108
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Ggta1
- Phenotype
- immune system phenotype; neoplasm; hematopoietic system phenotype; normal phenotype;
Gene ontology
- Biological process
- carbohydrate metabolic process;biological_process;protein galactosylation at cell surface;leukotriene D4 biosynthetic process
- Cellular component
- cellular_component;integral component of membrane;Golgi cisterna;Golgi cisterna membrane
- Molecular function
- molecular_function;transferase activity, transferring hexosyl groups