Table 10.

LARS2 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein Change
(Alias 1)		Reference Sequences
c.351G>Cp.Met117Ile NM_015340​.3
NP_056155​.1
c.880G>Ap.Glu294Lys
c.1077delTp.Ile360PhefsTer15
(Ile360fsTer)
c.1358G>Ap.Arg453Gln
c.1556C>Tp.Thr519Met
c.1565C>Ap.Thr522Asn 2
c.1886C>Tp.Thr629Met

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

2.

From: Perrault Syndrome

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