Table 7.

Notable FGFR3 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000142​.4
NP_000133​.1 		c.829A>Gp.Tyr278CysPhenotype resembles achondroplasia in newborns [Heuertz et al 2006, Song et al 2012].
c.1043C>Gp.Ser348CysPhenotype resembles mild achondroplasia / severe hypochondroplasia [Hasegawa et al 2016, Couser et al 2017, Bengur et al 2020].
c.1138G>A or c.1138G>Cp.Gly380Arg 1Common pathogenic variant in achondroplasia
c.1620C>A or c.1620C>Gp.Asn540Lys 1Most common pathogenic variant in hypochondroplasia (See Table 1.)
c.1950G>Tp.Lys650AsnMilder skeletal phenotype [Bellus et al 2000]
c.1948A>Cp.Lys650GlnGreater likelihood of developing acanthosis nigricans [Berk et al 2010, Blomberg et al 2010]
c.1949A>Cp.Lys650Thr

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.

In the literature, two protein variants (p.Asn540Lys, p.Gly380Arg) may be cited without designating the precise underlying nucleotide substitution.

From: Hypochondroplasia

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