H2AC12
Basic information
Region (hg38): 6:27147106-27147562
Previous symbols: [ "HIST1H2AH" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the H2AC12 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 | 19 | 19 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 19 | 0 | 0 |
Variants in H2AC12
This is a list of pathogenic ClinVar variants found in the H2AC12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-27147132-T-G | not specified | Uncertain significance (May 30, 2023) | ||
6-27147133-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
6-27147138-C-T | not specified | Uncertain significance (Jan 23, 2024) | ||
6-27147142-G-A | not specified | Uncertain significance (Jan 18, 2025) | ||
6-27147147-C-G | not specified | Uncertain significance (Oct 06, 2022) | ||
6-27147148-A-G | not specified | Uncertain significance (Jan 05, 2022) | ||
6-27147150-G-A | not specified | Uncertain significance (Nov 12, 2024) | ||
6-27147151-G-T | not specified | Uncertain significance (Mar 20, 2024) | ||
6-27147175-A-G | not specified | Uncertain significance (May 28, 2025) | ||
6-27147177-A-G | not specified | Uncertain significance (Nov 23, 2024) | ||
6-27147189-C-T | not specified | Uncertain significance (Mar 18, 2025) | ||
6-27147190-G-A | not specified | Uncertain significance (Jun 03, 2025) | ||
6-27147190-G-T | not specified | Uncertain significance (Mar 25, 2025) | ||
6-27147193-C-T | not specified | Uncertain significance (Aug 21, 2023) | ||
6-27147219-G-A | not specified | Uncertain significance (Oct 03, 2023) | ||
6-27147231-C-T | not specified | Uncertain significance (May 17, 2023) | ||
6-27147234-C-T | not specified | Uncertain significance (Apr 08, 2025) | ||
6-27147240-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
6-27147253-A-C | not specified | Uncertain significance (May 01, 2025) | ||
6-27147262-G-C | not specified | Uncertain significance (Jun 05, 2023) | ||
6-27147289-C-T | not specified | Uncertain significance (Mar 08, 2025) | ||
6-27147327-G-A | not specified | Uncertain significance (Apr 07, 2025) | ||
6-27147328-C-T | not specified | Uncertain significance (Jan 31, 2024) | ||
6-27147352-A-G | not specified | Uncertain significance (Feb 06, 2024) | ||
6-27147367-T-C | not specified | Uncertain significance (Feb 14, 2025) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling.;
- Pathway
- Systemic lupus erythematosus - Homo sapiens (human);Necroptosis - Homo sapiens (human);Alcoholism - Homo sapiens (human);Post-translational protein modification;HDACs deacetylate histones;Metabolism of proteins;RMTs methylate histone arginines;Chromatin modifying enzymes;Metalloprotease DUBs;HATs acetylate histones;UCH proteinases;Ub-specific processing proteases;Deubiquitination;Chromatin organization
(Consensus)
Intolerance Scores
- loftool
- 0.397
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.41
Haploinsufficiency Scores
- pHI
- 0.972
- hipred
- N
- hipred_score
- 0.215
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.997
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hist1h2ah
- Phenotype
Gene ontology
- Biological process
- chromatin organization;biological_process
- Cellular component
- nucleosome;nuclear chromatin;extracellular exosome
- Molecular function
- molecular_function;DNA binding;protein heterodimerization activity