Extended Data Fig. 3: IGV visualization of the splice donor variant GRCh37:12-40626187-T-C in the GTEx LRRK2 pLoF carrier exome sequencing data and lung tissue RNA-seq data compared to a control GTEx lung RNA-seq sample. | Nature Medicine

Extended Data Fig. 3: IGV visualization of the splice donor variant GRCh37:12-40626187-T-C in the GTEx LRRK2 pLoF carrier exome sequencing data and lung tissue RNA-seq data compared to a control GTEx lung RNA-seq sample.

From: The effect of LRRK2 loss-of-function variants in humans

Extended Data Fig. 3

The pLoF variant is observed on reads containing an anchoring missense variant, GRCh37:12-40626185-A-G (A green and G orange), and these reads are presenting normal splicing as seen in the control RNA-seq sample.

Back to article page