ADH1C

alcohol dehydrogenase 1C (class I), gamma polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99336496-99352746

Previous symbols: [ "ADH3" ]

Links

ENSG00000248144 ∙ NCBI:126 ∙ OMIM:103730 ∙ HGNC:251 ∙ Uniprot:P00326 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADH1C gene.

• Inborn genetic diseases (13 variants)
• not provided (9 variants)
• not specified (1 variants)
• Parkinson disease, late-onset (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH1C 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				4	1	5
missense			12	2	2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding					1	1
Total	0	0	12	6	4

Variants in ADH1C

This is a list of pathogenic ClinVar variants found in the ADH1C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-99336767-G-A			Likely benign (Jul 01, 2022)
4-99339614-T-C		Parkinson disease, late-onset	Uncertain significance (Mar 01, 2023)
4-99339626-G-T			Benign (Jul 31, 2018)
4-99339632-T-C		Alcohol dependence	protective (Jun 01, 2008)
4-99340601-C-T		not specified	Uncertain significance (Aug 08, 2022)
4-99340656-C-G		not specified	Uncertain significance (Feb 17, 2022)
4-99340665-T-A		not specified	Uncertain significance (Nov 07, 2022)
4-99340700-A-C		not specified	Uncertain significance (Jan 26, 2023)
4-99342788-A-T			Likely benign (Jul 01, 2022)
4-99342789-T-A			Likely benign (Jul 01, 2022)
4-99342808-C-T		Alcohol dependence	protective (Jun 01, 2008)
4-99342945-G-A			Benign (Feb 01, 2023)
4-99343000-A-G		not specified	Likely benign (Oct 06, 2021)
4-99344873-T-C		not specified	Uncertain significance (Apr 13, 2022)
4-99344907-G-A			Benign/Likely benign (Aug 01, 2022)
4-99344938-G-A		not specified	Uncertain significance (Feb 07, 2023)
4-99344993-T-A		not specified	Uncertain significance (Dec 09, 2023)
4-99345000-G-A			Benign/Likely benign (Aug 01, 2022)
4-99345006-G-A			Likely benign (Jul 18, 2018)
4-99345058-A-G		not specified	Uncertain significance (Dec 01, 2022)
4-99345070-G-C		not specified	Uncertain significance (Dec 21, 2022)
4-99347033-C-A		Parkinson disease, mitochondrial	risk factor (Jan 01, 2005)
4-99347033-C-C		not specified	Benign (Mar 28, 2016)
4-99347048-T-C		not specified	Uncertain significance (Aug 08, 2023)
4-99347074-A-G		not specified	Likely benign (Feb 16, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Retinol metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Abacavir Pathway, Pharmacokinetics/Pharmacodynamics;Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Fatty Acid Omega Oxidation;Amino Acid metabolism;Ethanol effects on histone modifications;Signal Transduction;Phase I - Functionalization of compounds;RA biosynthesis pathway;Ethanol oxidation;Biological oxidations;Metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;Tyrosine metabolism (Consensus)

Essentials

• essential_gene_CRISPR2: N

Mouse Genome Informatics

• Gene name: Adh1
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: ethanol oxidation;retinol metabolic process;retinoic acid metabolic process
• Cellular component: nucleoplasm;cytosol;plasma membrane
• Molecular function: alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;retinol dehydrogenase activity;zinc ion binding