LINC00571
Basic information
Region (hg38): 13:38050817-38350284
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (13 variants)
- Leukodystrophy, hypomyelinating, 14 (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC00571 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 | 15 | |||||
Total | 0 | 2 | 7 | 4 | 2 |
Highest pathogenic variant AF is 0.00000657
Variants in LINC00571
This is a list of pathogenic ClinVar variants found in the LINC00571 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
13-38349764-TTCA-T | Leukodystrophy, hypomyelinating, 14 | Pathogenic/Likely pathogenic (Dec 12, 2023) | ||
13-38349920-A-G | Leukodystrophy, hypomyelinating, 14 | Likely pathogenic (Oct 21, 2022) | ||
13-38349922-G-A | Congenital long QT syndrome | Likely pathogenic (-) | ||
13-38349925-A-C | UFM1-related disorder | Likely benign (Feb 27, 2019) | ||
13-38349946-A-T | Leukodystrophy, hypomyelinating, 14 | Benign (Dec 05, 2021) | ||
13-38350046-C-T | UFM1-related disorder | Likely benign (Jun 12, 2019) | ||
13-38350047-G-A | Likely benign (Feb 01, 2024) | |||
13-38350124-G-A | Uncertain significance (Jan 02, 2024) | |||
13-38350126-T-C | Benign (Jan 31, 2024) | |||
13-38350126-T-G | Likely benign (Jun 21, 2023) | |||
13-38350130-C-T | Uncertain significance (Nov 22, 2022) | |||
13-38350132-A-G | Likely benign (Mar 08, 2022) | |||
13-38350145-C-G | Uncertain significance (Nov 23, 2021) | |||
13-38350148-A-C | Uncertain significance (Mar 16, 2022) | |||
13-38350159-C-T | Likely benign (Jul 03, 2022) | |||
13-38350164-C-T | Uncertain significance (Sep 17, 2021) | |||
13-38350167-C-T | Uncertain significance (Aug 04, 2023) | |||
13-38350173-C-CT | Uncertain significance (Dec 07, 2023) | |||
13-38350245-A-G | Likely benign (Sep 27, 2022) |
GnomAD
Source:
dbNSFP
Source: