GAS6-AS1
Basic information
Region (hg38): 13:113815630-113845744
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (31 variants)
- not provided (12 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAS6-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 | 28 | 43 | ||||
Total | 0 | 0 | 28 | 6 | 9 |
Variants in GAS6-AS1
This is a list of pathogenic ClinVar variants found in the GAS6-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 |
---|---|---|---|---|
13-113820886-G-A | not specified | Uncertain significance (Mar 27, 2023) | ||
13-113820958-A-C | not specified | Uncertain significance (Mar 01, 2024) | ||
13-113820989-C-T | not specified | Uncertain significance (Aug 05, 2023) | ||
13-113820999-C-T | Likely benign (Jun 01, 2018) | |||
13-113821021-G-A | Likely benign (Feb 26, 2018) | |||
13-113821970-C-T | not specified | Uncertain significance (Dec 15, 2021) | ||
13-113821993-C-T | Benign (Jul 04, 2018) | |||
13-113822006-C-T | Benign (Apr 10, 2018) | |||
13-113822012-C-T | not specified | Uncertain significance (Mar 23, 2022) | ||
13-113822048-C-T | not specified | Uncertain significance (Mar 23, 2022) | ||
13-113822049-G-A | Benign (Jul 16, 2018) | |||
13-113822071-A-G | not specified | Uncertain significance (Feb 12, 2024) | ||
13-113822075-C-G | not specified | Uncertain significance (Jan 23, 2024) | ||
13-113822090-C-A | not specified | Uncertain significance (May 12, 2024) | ||
13-113822101-G-A | Benign (Apr 10, 2018) | |||
13-113822120-C-T | not specified | Uncertain significance (Jan 07, 2022) | ||
13-113822125-C-T | not specified | Uncertain significance (Dec 12, 2023) | ||
13-113822150-G-T | not specified | Uncertain significance (Aug 12, 2021) | ||
13-113823388-T-G | not specified | Uncertain significance (Jul 12, 2023) | ||
13-113823403-T-C | not specified | Uncertain significance (Mar 16, 2022) | ||
13-113823436-C-T | not specified | Likely benign (Sep 28, 2022) | ||
13-113823437-G-A | not specified | Uncertain significance (May 09, 2023) | ||
13-113823530-C-T | Benign (May 09, 2018) | |||
13-113823531-G-A | Benign (Jul 18, 2018) | |||
13-113823533-C-T | not specified | Likely benign (Dec 20, 2023) |
GnomAD
Source:
dbNSFP
Source: