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catenin beta 1


Approved Name: catenin beta 1
CTNNB1 aliases: beta-catenin, armadillo
Chromosomal Location: 3p22.1
Tier 1 Gene with three or more de novo pathogenic loss-of-function variants
0.18 Haploinsufficiency Score (Decipher)
1 Probability of Being LoF Intolerant (gnomAD)
Last Updated: Dec 31, 2019
Gene Reviews


Patient ID * Disorder(s) Variant Type Inheritance Method Chromosome * Start Coordinate * End Coordinate * CNV Size * Genome Build * Coding DNA Change * Protein Change * Position * Reference Sequence * Alternate Sequence * Reference


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Wang Q et. al., Effect of Damaging Rare Mutations in Synapse-Related Gene Sets on Response to Short-term Antipsychotic Medication in Chinese Patients With Schizophrenia: A Randomized Clinical Trial., JAMA Psychiatry, 2018
Percy AK et. al., When Rett syndrome is due to genes other than <i>MECP2</i>., Transl Sci Rare Dis, 2018