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NBEA

neurobeachin

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

Cases

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