HAGH
Basic information
Region (hg38): 16:1795620-1827157
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 HAGH 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 | 21 | ||||
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 | 2 | 0 |
Variants in HAGH
This is a list of pathogenic ClinVar variants found in the HAGH region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-1809290-C-T | not specified | Uncertain significance (Dec 22, 2023) | ||
16-1809299-T-C | not specified | Uncertain significance (Aug 05, 2024) | ||
16-1809303-A-G | not specified | Uncertain significance (Jul 31, 2024) | ||
16-1809312-T-C | not specified | Uncertain significance (Sep 01, 2024) | ||
16-1809360-C-T | not specified | Uncertain significance (Mar 28, 2023) | ||
16-1809791-C-T | not specified | Uncertain significance (Oct 12, 2024) | ||
16-1809797-T-C | not specified | Uncertain significance (Jun 22, 2024) | ||
16-1809818-C-T | not specified | Uncertain significance (Aug 07, 2024) | ||
16-1809827-A-T | not specified | Uncertain significance (Feb 07, 2023) | ||
16-1816916-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
16-1816927-T-C | not specified | Uncertain significance (Feb 05, 2024) | ||
16-1816940-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
16-1816945-C-T | not specified | Uncertain significance (Jun 02, 2024) | ||
16-1816981-C-T | not specified | Uncertain significance (Sep 05, 2024) | ||
16-1816985-A-G | not specified | Uncertain significance (Oct 14, 2023) | ||
16-1817250-C-A | not specified | Uncertain significance (Nov 12, 2024) | ||
16-1817253-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
16-1819189-G-T | not specified | Uncertain significance (Sep 14, 2022) | ||
16-1819190-G-A | not specified | Uncertain significance (Apr 17, 2024) | ||
16-1819208-C-T | not specified | Uncertain significance (Dec 30, 2023) | ||
16-1819898-T-G | not specified | Uncertain significance (Aug 08, 2023) | ||
16-1819920-T-C | not specified | Likely benign (Aug 19, 2023) | ||
16-1819952-C-A | not specified | Uncertain significance (Aug 11, 2024) | ||
16-1819952-C-T | not specified | Uncertain significance (Nov 20, 2024) | ||
16-1822340-C-T | not specified | Uncertain significance (Feb 23, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HAGH | protein_coding | protein_coding | ENST00000397356 | 9 | 31575 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000177 | 0.899 | 125706 | 0 | 42 | 125748 | 0.000167 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.12 | 233 | 190 | 1.23 | 0.0000124 | 1973 |
Missense in Polyphen | 88 | 72.046 | 1.2214 | 728 | ||
Synonymous | -1.92 | 107 | 84.5 | 1.27 | 0.00000628 | 638 |
Loss of Function | 1.49 | 8 | 14.0 | 0.571 | 5.89e-7 | 185 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000489 | 0.000489 |
Ashkenazi Jewish | 0.000795 | 0.000794 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000213 | 0.000185 |
European (Non-Finnish) | 0.000150 | 0.000149 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000980 | 0.0000980 |
Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Thiolesterase that catalyzes the hydrolysis of S-D- lactoyl-glutathione to form glutathione and D-lactic acid.;
- Pathway
- Pyruvate metabolism - Homo sapiens (human);Pyruvate Dehydrogenase Complex Deficiency;Primary hyperoxaluria II, PH2;Pyruvate kinase deficiency;Leigh Syndrome;Pyruvate Metabolism;Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency);Pyruvaldehyde Degradation;Pyruvate metabolism;Pyruvate metabolism and Citric Acid (TCA) cycle;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;p73 transcription factor network;Pyruvate metabolism;methylglyoxal degradation I
(Consensus)
Recessive Scores
- pRec
- 0.301
Intolerance Scores
- loftool
- 0.160
- rvis_EVS
- -0.11
- rvis_percentile_EVS
- 45.36
Haploinsufficiency Scores
- pHI
- 0.324
- hipred
- N
- hipred_score
- 0.294
- ghis
- 0.493
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.956
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hagh
- Phenotype
Gene ontology
- Biological process
- pyruvate metabolic process;glutathione biosynthetic process;methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione
- Cellular component
- mitochondrial matrix;cytosol
- Molecular function
- hydroxyacylglutathione hydrolase activity;protein binding;metal ion binding