GOLGA8IP
Basic information
Region (hg38): 15:22607540-22617756
Previous symbols: [ "GOLGA9P", "GOLGA8I" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOLGA8IP 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) | 1 | |||||
splice region | 0 | |||||
non coding | 6 | |||||
Total | 0 | 0 | 0 | 7 | 0 |
Variants in GOLGA8IP
This is a list of pathogenic ClinVar variants found in the GOLGA8IP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-22607690-G-C | Likely benign (Feb 01, 2023) | |||
15-22608153-G-A | Likely benign (Feb 01, 2023) | |||
15-22608940-C-G | Likely benign (Jan 01, 2023) | |||
15-22609499-G-A | Likely benign (Feb 01, 2023) | |||
15-22609500-T-C | Likely benign (Feb 01, 2023) | |||
15-22611325-A-G | Likely benign (Feb 01, 2023) | |||
15-22611326-G-A | Likely benign (Feb 01, 2023) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: May be involved in maintaining Golgi structure. {ECO:0000250}.;
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.431
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene ontology
- Biological process
- Golgi organization;spindle assembly
- Cellular component
- Golgi cis cisterna;Golgi apparatus;cis-Golgi network;Golgi cisterna membrane
- Molecular function