NBEA

Approved Name: neurobeachin
NBEA aliases: KIAA1544, BCL8B, FLJ10197, LYST2
Chromosomal Location: 13q13.3
HGNC: HGNC:7648

Tier 1 Gene with three or more de novo pathogenic loss-of-function variants

6.83 Haploinsufficiency Score (Decipher)

1 Probability of Being LoF Intolerant (gnomAD)

Last Updated: Dec 31, 2019
NCBI Gene
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

Research