Table 3.

Notable GRN Pathogenic Variants

Reference SequencesDNA
Nucleotide
Change
(Alias 1)		Predicted
Protein
Change		Comment [Reference]
NM​_002087
NP​_002078 		c.1477C>T
(g.3240C>T)		p.Arg493Ter
c.26C>Ap.Ala9Asp
  • 2nd most commonly reported pathogenic variant
  • Only 25% reported to have a family history, suggesting possible ↓ penetrance or de novo occurrence [Chen-Plotkin et al 2011].
NM​_002087 c.-8+5G>C
(IVS0+5G>C)		--Founder variant in an extended Belgian pedigree [Cruts et al 2006]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: GRN Frontotemporal Dementia

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