HDAC2-AS2
Basic information
Region (hg38): 6:113969701-114548369
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HDAC2-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) | 0 | |||||
splice region | 0 | |||||
non coding | 8 | |||||
Total | 0 | 0 | 8 | 0 | 0 |
Variants in HDAC2-AS2
This is a list of pathogenic ClinVar variants found in the HDAC2-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 |
---|---|---|---|---|
6-113970880-T-C | not specified | Uncertain significance (May 14, 2024) | ||
6-114057362-A-C | not specified | Uncertain significance (May 02, 2024) | ||
6-114057402-A-G | not specified | Uncertain significance (Nov 06, 2023) | ||
6-114057435-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
6-114057583-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
6-114057609-C-G | not specified | Uncertain significance (Feb 07, 2023) | ||
6-114057766-A-T | not specified | Uncertain significance (May 10, 2024) | ||
6-114057943-C-T | not specified | Uncertain significance (Jul 20, 2021) | ||
6-114058035-T-C | not specified | Uncertain significance (Oct 12, 2021) | ||
6-114058053-C-T | not specified | Uncertain significance (Feb 07, 2023) | ||
6-114058062-T-C | not specified | Uncertain significance (Nov 17, 2023) | ||
6-114058104-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
6-114058116-A-G | not specified | Uncertain significance (May 06, 2024) | ||
6-114058146-C-T | not specified | Uncertain significance (Oct 20, 2021) | ||
6-114058161-C-T | not specified | Uncertain significance (Feb 12, 2024) | ||
6-114062751-C-A | not specified | Uncertain significance (Apr 04, 2024) | ||
6-114062761-C-T | not specified | Uncertain significance (Mar 21, 2023) | ||
6-114062821-G-T | not specified | Uncertain significance (Feb 21, 2024) | ||
6-114062841-A-G | not specified | Uncertain significance (Aug 03, 2022) |
GnomAD
Source:
dbNSFP
Source: