Table 7. [Notable FGFR3 Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_000142.4 NP_000133.1	c.829A>G	p.Tyr278Cys	Phenotype resembles achondroplasia in newborns [Heuertz et al 2006, Song et al 2012].
c.1043C>G	p.Ser348Cys	Phenotype resembles mild achondroplasia / severe hypochondroplasia [Hasegawa et al 2016, Couser et al 2017, Bengur et al 2020].
c.1138G>A or c.1138G>C	p.Gly380Arg ¹	Common pathogenic variant in achondroplasia
c.1620C>A or c.1620C>G	p.Asn540Lys ¹	Most common pathogenic variant in hypochondroplasia (See Table 1.)
c.1950G>T	p.Lys650Asn	Milder skeletal phenotype [Bellus et al 2000]
c.1948A>C	p.Lys650Gln	Greater likelihood of developing acanthosis nigricans [Berk et al 2010, Blomberg et al 2010]
c.1949A>C	p.Lys650Thr

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

NM_000142.4
NP_000133.1

c.829A>G

p.Tyr278Cys

Phenotype resembles achondroplasia in newborns [Heuertz et al 2006, Song et al 2012].

c.1043C>G

p.Ser348Cys

Phenotype resembles mild achondroplasia / severe hypochondroplasia [Hasegawa et al 2016, Couser et al 2017, Bengur et al 2020].

c.1138G>A or c.1138G>C

p.Gly380Arg ¹

Common pathogenic variant in achondroplasia

c.1620C>A or c.1620C>G

p.Asn540Lys ¹

Most common pathogenic variant in hypochondroplasia (See Table 1.)

c.1950G>T

p.Lys650Asn

Milder skeletal phenotype [Bellus et al 2000]

c.1948A>C

p.Lys650Gln

Greater likelihood of developing acanthosis nigricans [Berk et al 2010, Blomberg et al 2010]

c.1949A>C

p.Lys650Thr

From: Hypochondroplasia

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