LINC01389
Basic information
Region (hg38): 1:47380733-47433569
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 LINC01389 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 LINC01389
This is a list of pathogenic ClinVar variants found in the LINC01389 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-47416226-G-T | Benign (Aug 14, 2018) | |||
1-47416235-T-TG | Benign (Mar 06, 2020) | |||
1-47416245-C-G | Likely benign (Apr 12, 2019) | |||
1-47416265-TCGGCGGCCCCTGCGGTCCCGGAGCCGCGCGGGCAGGGGCTGCCGCAGCCGATGGCGGGGCGCAGCGACATGGATCCGCCCGCCGCGTTCTCTGGCTTCCCTGCCCTGCCAGCGGTCGCGCCGTCGGGGCCGCCGCCGTCGCCGCTCGCAGGAGCCGAGCCAGGGCGGGAGCCAGAGGAGGCGGCGGCTGGCCGCGGAGAGGCGGCCCCCACGCCCGCGCCCGGCCCGGGGCGGCGGCGG-T | Congenital primary aphakia;Anterior segment dysgenesis | Uncertain significance (Jan 21, 2019) | ||
1-47416272-C-T | Likely benign (Sep 18, 2018) | |||
1-47416302-G-A | not specified | Benign (Jul 31, 2023) | ||
1-47416306-G-A | FOXE3-related disorder | Likely benign (Jul 03, 2021) | ||
1-47416314-C-G | not specified | Uncertain significance (Aug 10, 2023) | ||
1-47416316-A-G | Anterior segment dysgenesis;Congenital primary aphakia | Uncertain significance (Mar 13, 2024) | ||
1-47416316-A-T | Anterior segment dysgenesis;Congenital primary aphakia | Uncertain significance (Mar 09, 2022) | ||
1-47416316-AT-A | Congenital primary aphakia;Anterior segment dysgenesis | Uncertain significance (Mar 07, 2024) | ||
1-47416318-G-A | Uncertain significance (Mar 01, 2022) | |||
1-47416318-G-C | Congenital primary aphakia;Anterior segment dysgenesis • not specified | Uncertain significance (Apr 09, 2024) | ||
1-47416318-G-T | Cardiovascular phenotype | Uncertain significance (Nov 08, 2022) | ||
1-47416320-C-G | Cardiovascular phenotype | Uncertain significance (Apr 26, 2024) | ||
1-47416321-G-A | Cardiovascular phenotype • Anterior segment dysgenesis;Congenital primary aphakia | Conflicting classifications of pathogenicity (May 27, 2024) | ||
1-47416321-G-C | Anterior segment dysgenesis;Congenital primary aphakia • Cardiovascular phenotype | Likely benign (Oct 17, 2024) | ||
1-47416321-G-T | Cardiovascular phenotype • Congenital primary aphakia;Anterior segment dysgenesis | Likely benign (Sep 24, 2023) | ||
1-47416328-A-AG | Cardiovascular phenotype | Uncertain significance (May 01, 2024) | ||
1-47416331-G-A | not specified • Congenital primary aphakia;Anterior segment dysgenesis • Cardiovascular phenotype | Benign/Likely benign (Feb 03, 2025) | ||
1-47416333-CATGG-C | Congenital primary aphakia • Congenital primary aphakia;Anterior segment dysgenesis | Pathogenic (Apr 10, 2024) | ||
1-47416334-A-G | Cardiovascular phenotype • Congenital primary aphakia;Anterior segment dysgenesis | Uncertain significance (Sep 18, 2024) | ||
1-47416337-G-C | Congenital primary aphakia;Anterior segment dysgenesis | Uncertain significance (Oct 04, 2021) | ||
1-47416342-G-T | Cardiovascular phenotype | Likely benign (Nov 26, 2023) | ||
1-47416343-C-T | Cardiovascular phenotype | Uncertain significance (Nov 26, 2023) |
GnomAD
Source:
dbNSFP
Source: