HOXA-AS2
Basic information
Region (hg38): 7:27107777-27134302
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (49 variants)
- not provided (16 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOXA-AS2 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) | 1 | |||||
splice region | 0 | |||||
non coding | 48 | 13 | 65 | |||
Total | 0 | 0 | 49 | 4 | 13 |
Variants in HOXA-AS2
This is a list of pathogenic ClinVar variants found in the HOXA-AS2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-27107937-G-A | not specified | Uncertain significance (Jan 24, 2023) | ||
7-27107953-C-G | not specified | Uncertain significance (Dec 20, 2021) | ||
7-27107985-T-C | not specified | Uncertain significance (Mar 21, 2023) | ||
7-27107989-T-C | not specified | Uncertain significance (Mar 02, 2023) | ||
7-27107999-C-G | not specified | Uncertain significance (Sep 26, 2022) | ||
7-27108004-C-T | not specified | Uncertain significance (Oct 30, 2023) | ||
7-27108081-G-C | not specified | Uncertain significance (Nov 10, 2022) | ||
7-27108127-G-T | not specified | Uncertain significance (Dec 08, 2023) | ||
7-27108135-T-A | not specified | Uncertain significance (Jul 14, 2021) | ||
7-27108154-C-A | not specified | Uncertain significance (Jun 09, 2022) | ||
7-27108208-G-A | not specified | Uncertain significance (Feb 27, 2024) | ||
7-27108235-C-A | not specified | Uncertain significance (Oct 20, 2023) | ||
7-27108274-G-T | not specified | Uncertain significance (May 20, 2024) | ||
7-27108293-G-C | not specified | Uncertain significance (Dec 14, 2022) | ||
7-27108310-G-T | not specified | Uncertain significance (Dec 20, 2023) | ||
7-27108337-T-C | not specified | Likely benign (Nov 18, 2022) | ||
7-27108423-C-T | not specified | Uncertain significance (May 09, 2023) | ||
7-27108438-G-T | not specified | Uncertain significance (Aug 14, 2023) | ||
7-27108465-C-T | not specified | Uncertain significance (Jan 30, 2024) | ||
7-27108571-T-C | not specified | Uncertain significance (May 23, 2023) | ||
7-27108610-T-G | not specified | Uncertain significance (Jan 23, 2024) | ||
7-27108615-T-A | not specified | Uncertain significance (Dec 31, 2023) | ||
7-27108678-G-C | not specified | Uncertain significance (Dec 01, 2022) | ||
7-27110196-G-A | not specified | Uncertain significance (Nov 15, 2021) | ||
7-27110211-G-A | not specified | Uncertain significance (Apr 18, 2023) |
GnomAD
Source:
dbNSFP
Source: