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ALDH1B1

Synonyms
ALDH5, ALDHX
External resources
Summary
This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
936
Likely benign
392
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ALDH1B1 gene.

Phenotype class
Patients in 3billion (%)

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