EIF1B-AS1
Basic information
Region (hg38): 3:40061110-40453341
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 EIF1B-AS1 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 |
Variants in EIF1B-AS1
This is a list of pathogenic ClinVar variants found in the EIF1B-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-40151083-A-G | not specified | Uncertain significance (May 18, 2023) | ||
3-40151097-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
3-40151107-G-T | not specified | Uncertain significance (Nov 09, 2023) | ||
3-40151124-G-A | not specified | Uncertain significance (Jan 22, 2024) | ||
3-40151137-T-G | not specified | Uncertain significance (Jun 29, 2023) | ||
3-40151175-G-C | not specified | Uncertain significance (Sep 01, 2021) | ||
3-40166846-G-A | not specified | Uncertain significance (Jan 24, 2024) | ||
3-40166926-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
3-40167174-G-T | not specified | Uncertain significance (Mar 22, 2024) | ||
3-40167192-C-A | not specified | Uncertain significance (Jan 18, 2022) | ||
3-40167243-G-A | Benign (Nov 03, 2018) | |||
3-40170053-C-T | not specified | Uncertain significance (Dec 26, 2023) | ||
3-40170082-G-A | not specified | Likely benign (Jan 10, 2023) | ||
3-40182266-C-G | not specified | Uncertain significance (Nov 07, 2022) | ||
3-40182310-C-G | not specified | Uncertain significance (Oct 25, 2023) | ||
3-40182315-C-A | not specified | Likely benign (Aug 10, 2021) | ||
3-40182317-C-T | Benign/Likely benign (Sep 01, 2022) | |||
3-40189852-G-A | not specified | Uncertain significance (Apr 24, 2024) | ||
3-40189921-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
3-40189925-C-T | not specified | Uncertain significance (Aug 25, 2021) | ||
3-40189926-G-A | Benign (Apr 16, 2018) | |||
3-40189960-T-A | not specified | Uncertain significance (Feb 09, 2023) | ||
3-40189984-G-A | not specified | Uncertain significance (Sep 06, 2022) | ||
3-40190032-C-A | not specified | Uncertain significance (Jul 26, 2022) | ||
3-40190032-C-T | not specified | Uncertain significance (Apr 06, 2024) |
GnomAD
Source:
dbNSFP
Source: