ARL17A
Basic information
Region (hg38): 17:46499780-46579695
Previous symbols: [ "ARF1P2", "ARL17P1" ]
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 ARL17A 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 | 1 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 54 | 15 | 69 | |||
Total | 0 | 0 | 55 | 15 | 0 |
Variants in ARL17A
This is a list of pathogenic ClinVar variants found in the ARL17A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-46512741-T-C | not specified | Likely benign (Jan 17, 2024) | ||
17-46512762-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
17-46512809-C-G | not specified | Uncertain significance (Jan 23, 2023) | ||
17-46512848-C-T | not specified | Uncertain significance (Apr 22, 2024) | ||
17-46512917-C-T | not specified | Likely benign (Apr 13, 2023) | ||
17-46512920-G-A | not specified | Uncertain significance (Jun 17, 2024) | ||
17-46512972-T-C | not specified | Uncertain significance (Nov 10, 2022) | ||
17-46513017-C-T | not specified | Likely benign (Jul 25, 2023) | ||
17-46513035-C-A | not specified | Uncertain significance (Aug 08, 2022) | ||
17-46513160-C-G | not specified | Uncertain significance (May 25, 2022) | ||
17-46513308-T-G | not specified | Uncertain significance (Dec 09, 2023) | ||
17-46513311-G-A | not specified | Uncertain significance (Oct 05, 2021) | ||
17-46513422-C-T | not specified | Likely benign (Jun 22, 2021) | ||
17-46513452-C-T | not specified | Uncertain significance (Jun 30, 2022) | ||
17-46514691-G-A | not specified | Likely benign (Jun 30, 2022) | ||
17-46514949-C-G | not specified | Uncertain significance (May 26, 2024) | ||
17-46514949-C-T | not specified | Uncertain significance (May 17, 2023) | ||
17-46514987-C-T | not specified | Uncertain significance (Mar 02, 2023) | ||
17-46515039-G-A | not specified | Likely benign (Jan 17, 2024) | ||
17-46515041-C-A | not specified | Uncertain significance (Feb 10, 2022) | ||
17-46515066-G-A | not specified | Uncertain significance (May 12, 2024) | ||
17-46515178-C-G | not specified | Likely benign (Jul 21, 2021) | ||
17-46517231-G-C | not specified | Uncertain significance (Jul 21, 2021) | ||
17-46517428-G-C | not specified | Uncertain significance (Apr 18, 2023) | ||
17-46538392-C-T | Uncertain significance (Jun 01, 2022) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity). {ECO:0000250}.;
Haploinsufficiency Scores
- pHI
- hipred
- hipred_score
- ghis
- 0.486
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene ontology
- Biological process
- protein transport;vesicle-mediated transport
- Cellular component
- Golgi apparatus
- Molecular function
- GTP binding