Table 7. [Juvenile Hemochromatosis: Notable Pathogenic Variants by Gene]. - GeneReviews®

Gene ¹	Reference Sequences	DNA Nucleotide Change	Predicted Protein Change (Alias ²)	Comment [Reference]
HAMP	NM_021175.4 NP_066998.1	c.166C>T	p.Arg56Ter	Pathogenic variants that occur in known functional domains [Roetto et al 2003; Delatycki et al 2004; Jacolot et al 2004; Roetto et al 2004; Badar et al 2016; Author, unpublished data]
c.175C>G	p.Arg59Gly
c.175C>T	p.Arg59Ter
c.176G>C	p.Arg59Pro
c.208T>C	p.Cys70Arg
c.233G>A	p.Cys78Tyr
HJV	NM_213653.3 NP_998818.1	c.959G>T	p.Gly320Val	Most prevalent pathogenic variant reported to date [Kong et al 2019]
c.295G>A	p.Gly99Arg	Recurrent pathogenic variants in northern European individuals [Lanzara et al 2004, Hamdi-Rozé et al 2019]
c.302T>C	p.Leu101Pro
c.445delG	p.Asp149fs (p.Asp149ThrfsTer97)	Recurrent pathogenic variant in Italian individuals [Lanzara et al 2004]
c.526C>T	p.Arg176Cys	Pathogenic variant recurrent in French individuals [Hamdi-Rozé et al 2019]
c.745G>C	p.Asp249His	Most common pathogenic variant in Japanese individuals [Ikuta et al 2017]
c.934C>T	p.Gln312Ter	Predominant pathogenic variant in Japanese; recurrent in Chinese individuals [Ikuta et al 2017]
c.962_963delGCinsAA	p.Cys321Ter	Most common pathogenic variant in Chinese population [Lv et al 2018]
c.1006G>T	p.Gly336Ter	Pathogenic variant recurrent in Indian population [Dhillon et al 2018]

Gene ¹

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change
(Alias ²)

Comment [Reference]

HAMP

NM_021175.4
NP_066998.1

c.166C>T

p.Arg56Ter

Pathogenic variants that occur in known functional domains [Roetto et al 2003; Delatycki et al 2004; Jacolot et al 2004; Roetto et al 2004; Badar et al 2016; Author, unpublished data]

c.175C>G

p.Arg59Gly

c.175C>T

p.Arg59Ter

c.176G>C

p.Arg59Pro

c.208T>C

p.Cys70Arg

c.233G>A

p.Cys78Tyr

HJV

NM_213653.3
NP_998818.1

c.959G>T

p.Gly320Val

Most prevalent pathogenic variant reported to date [Kong et al 2019]

c.295G>A

p.Gly99Arg

Recurrent pathogenic variants in northern European individuals [Lanzara et al 2004, Hamdi-Rozé et al 2019]

c.302T>C

p.Leu101Pro

c.445delG

p.Asp149fs
(p.Asp149ThrfsTer97)

Recurrent pathogenic variant in Italian individuals [Lanzara et al 2004]

c.526C>T

p.Arg176Cys

Pathogenic variant recurrent in French individuals [Hamdi-Rozé et al 2019]

c.745G>C

p.Asp249His

Most common pathogenic variant in Japanese individuals [Ikuta et al 2017]

c.934C>T

p.Gln312Ter

Predominant pathogenic variant in Japanese; recurrent in Chinese individuals [Ikuta et al 2017]

c.962_963delGCinsAA

p.Cys321Ter

Most common pathogenic variant in Chinese population [Lv et al 2018]

c.1006G>T

p.Gly336Ter

Pathogenic variant recurrent in Indian population [Dhillon et al 2018]

From: Juvenile Hemochromatosis

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