HSPA2-AS1
Basic information
Region (hg38): 14:64508815-64540369
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (14 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPA2-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 | 14 | 14 | ||||
Total | 0 | 0 | 14 | 0 | 0 |
Variants in HSPA2-AS1
This is a list of pathogenic ClinVar variants found in the HSPA2-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 |
---|---|---|---|---|
14-64521599-A-G | not specified | Uncertain significance (Nov 25, 2024) | ||
14-64522130-C-T | not specified | Uncertain significance (Nov 09, 2022) | ||
14-64522243-A-T | not specified | Uncertain significance (Oct 12, 2021) | ||
14-64522309-G-A | not specified | Likely benign (Nov 27, 2023) | ||
14-64522330-A-T | not specified | Uncertain significance (Mar 20, 2024) | ||
14-64522403-G-A | not specified | Uncertain significance (May 03, 2023) | ||
14-64522444-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
14-64522452-A-C | not specified | Uncertain significance (Sep 20, 2023) | ||
14-64522505-T-C | not specified | Uncertain significance (Feb 22, 2023) | ||
14-64522537-A-G | not specified | Uncertain significance (Apr 22, 2022) | ||
14-64522570-A-C | not specified | Uncertain significance (Dec 12, 2023) | ||
14-64522676-G-A | not specified | Uncertain significance (Sep 23, 2023) | ||
14-64522701-A-T | not specified | Uncertain significance (Dec 26, 2023) | ||
14-64522750-G-A | not specified | Uncertain significance (Jun 26, 2024) | ||
14-64522754-A-G | not specified | Uncertain significance (Dec 28, 2022) | ||
14-64522776-G-C | not specified | Uncertain significance (May 22, 2023) | ||
14-64522790-C-A | not specified | Uncertain significance (Mar 04, 2024) | ||
14-64522790-C-G | not specified | Uncertain significance (Mar 01, 2024) | ||
14-64522792-A-G | not specified | Uncertain significance (Sep 24, 2024) | ||
14-64522810-T-C | not specified | Uncertain significance (Sep 20, 2023) | ||
14-64522882-G-C | not specified | Uncertain significance (Oct 12, 2024) | ||
14-64522955-C-A | not specified | Uncertain significance (Jan 23, 2024) | ||
14-64523009-A-G | not specified | Uncertain significance (Sep 29, 2022) | ||
14-64523010-T-G | not specified | Uncertain significance (Apr 27, 2024) | ||
14-64523013-G-A | not specified | Uncertain significance (Oct 26, 2021) |
GnomAD
Source:
dbNSFP
Source: