LRRC8A
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Translocations Genomic: t(9;20)(q34.11;q12)(g.31581_31582)
CDS: t(9;20)(q34.11;q12)(c.2158-2349_2158-2350)
AnimoAcid: 		Translocations Direct sequencing, PCR based assay, Restriction enzyme analysis Sawada A et al., 2003