Table 7.

Notable FTL Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000146​.3
NP_000137​.2 		c.460dupAp.Arg154LysfsTer27Most common pathogenic variant reported (~80% of alleles) [Curtis et al 2001, Chinnery et al 2007]
c.286G>Ap.Ala96ThrOnly missense variant reported in assoc w/neuroferritinopathy to date [Maciel et al 2005, Capalbo et al 2019]

Variants listed in the table have been provided by the author. 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.

From: Neuroferritinopathy

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