GP6-AS1
Basic information
Region (hg38): 19:55006152-55054990
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (116 variants)
- Inborn genetic diseases (42 variants)
- not specified (25 variants)
- Platelet-type bleeding disorder 11 (18 variants)
- Thrombocytopenia;Abnormal bleeding (1 variants)
- Abnormal bleeding (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GP6-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 | 66 | 27 | 58 | 160 | ||
Total | 7 | 2 | 66 | 27 | 58 |
Highest pathogenic variant AF is 0.0000788
Variants in GP6-AS1
This is a list of pathogenic ClinVar variants found in the GP6-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 |
---|---|---|---|---|
19-55013969-G-A | Benign (Jun 20, 2021) | |||
19-55014020-G-T | Benign (Nov 12, 2018) | |||
19-55014086-ATCAGGGTAATTGACATAT-A | Uncertain significance (Dec 09, 2024) | |||
19-55014101-A-G | Uncertain significance (Jun 26, 2022) | |||
19-55014129-A-G | not specified • Platelet-type bleeding disorder 11 | Benign (Feb 03, 2025) | ||
19-55014133-A-G | Likely benign (Sep 27, 2022) | |||
19-55014139-C-T | GP6-related disorder | Benign (Jan 01, 2025) | ||
19-55014140-G-A | not specified | Benign (Jan 30, 2025) | ||
19-55014146-C-T | Uncertain significance (Apr 06, 2022) | |||
19-55014156-T-G | Benign (Feb 02, 2025) | |||
19-55014192-C-CGGGA | GP6-related disorder | Benign (Dec 24, 2024) | ||
19-55014200-C-A | GP6-related disorder | Uncertain significance (Aug 31, 2023) | ||
19-55014215-C-T | Uncertain significance (Oct 04, 2022) | |||
19-55014218-C-T | not specified | Benign (Feb 03, 2025) | ||
19-55014228-T-C | not specified • Platelet-type bleeding disorder 11 | Benign (Feb 03, 2025) | ||
19-55014228-TG-CA | Likely benign (Jan 21, 2025) | |||
19-55014229-G-A | GP6-related disorder | Benign (Apr 26, 2024) | ||
19-55014258-C-A | Inborn genetic diseases | Uncertain significance (Dec 09, 2024) | ||
19-55014263-C-G | Inborn genetic diseases | Uncertain significance (Jul 06, 2021) | ||
19-55014278-G-GT | Uncertain significance (Mar 26, 2022) | |||
19-55014288-T-C | Uncertain significance (Oct 07, 2024) | |||
19-55014296-T-C | Inborn genetic diseases | Uncertain significance (Aug 12, 2021) | ||
19-55014317-T-C | Inborn genetic diseases | Uncertain significance (Jan 31, 2024) | ||
19-55014322-C-T | not specified • GP6-related disorder | Likely benign (Oct 22, 2024) | ||
19-55014324-G-A | not specified | Likely benign (Feb 03, 2025) |
GnomAD
Source:
dbNSFP
Source: