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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

Fig. 1

Pedigree and identification of the variant. a Pedigree of the family showing the relationship between affected and unaffected members. Grey line denotes unknown relationship (level of consanguinity), grey shading denotes unknown phenotype. b Chromosomal location of three variants identified within 1.9 Mb on chromosome 2. The orange text denotes the SCN9A nonsense variant. Blue text denotes the two other rare homozygous missense variants identified in the region. c Integrative Genomics Viewer (IGV) visualization of the SCN9A nonsense variant in four tested subjects

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