Full data view for gene PHEX

Information The variants shown are described using the NM_000444.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Chesher 2018 - - Germline - - - - - DNA SEQ - - XLHR - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Morey 2011 - - Germline - - - - - DNA SEQ - - XLHR Pat26 PubMed: Morey 2011 - F - Spain - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A G579R - PHEX_000139 - PubMed: Dixon 1998 - - Germline - - - - - DNA SEQ - - XLHR - PubMed: Dixon 1998 - - - - - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A 1734G>A (G579R) - PHEX_000139 - PubMed: Rowe 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR AG75 PubMed: Rowe 1997 - - - Spain - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A 1734G>A (G579R) - PHEX_000139 - PubMed: Rowe 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR POZN PubMed: Rowe 1997 - - - Poland - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Parent #1 - likely pathogenic g.22237187G>A g.22219070G>A 1735G>A, G579R - PHEX_000139 - PubMed: Francis 1997 - - Germline yes - - - - DNA SSCA, SEQ - - XLHR 317Pat4057 PubMed: Francis 1997 - M - Germany - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A 1735G>A, G579R - PHEX_000139 - PubMed: Francis 1997 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR 334Pat5587 PubMed: Francis 1997 - F - Germany - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A 1735G>A, G579R - PHEX_000139 - PubMed: Francis 1997 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR 340Pat5762 PubMed: Francis 1997 - F - Germany - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A G1736A - PHEX_000139 - PubMed: Filisetti 1999 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR EH90 PubMed: Filisetti 1999 patient F - - Europe - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A G1736A - PHEX_000139 - PubMed: Filisetti 1999 - - Germline - - - - - DNA SSCA, SEQ - - XLHR EO15 PubMed: Filisetti 1999 family M - - Europe - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A G579R - PHEX_000139 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2000 from PHEXdb-MutID90, PubMed: Pronicka 2004 - - - Poland - - - - - 1 Johan den Dunnen
+?/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic g.22237187G>A g.22219070G>A G579R - PHEX_000139 - PubMed: Popowska 2001 from PHEXdb-MutID90 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2001 from PHEXdb-MutID90 - - - Poland - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Gaucher 2009 - - Germline - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 family - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Gaucher 2009 - - Germline - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 family - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Durmaz 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Fam1Pat1 PubMed: Durmaz 2013 2-generation family, affected mother/2 daughters/son F - Turkey - - - - - 4 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Maternal (confirmed) - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Durmaz 2013 - - Germline - - - - - DNA SEQ - - XLHR Fam1Pat2 PubMed: Durmaz 2013 daughter F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Both (homozygous) - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Durmaz 2013 - - Germline - - - - - DNA SEQ - - XLHR Fam1Pat3 PubMed: Durmaz 2013 daughter F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Maternal (confirmed) - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Durmaz 2013 - - Germline - - - - - DNA SEQ - - XLHR Fam1Pat4 PubMed: Durmaz 2013 son M - Turkey - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR PatV1 PubMed: Ichikawa 2008 - - - United States - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Parent #1 - pathogenic (dominant) g.22237187G>A g.22219070G>A p.G579R - PHEX_000139 - PubMed: Jap 2011 - - Germline - - - - - DNA SEQ - - XLHR Pat5 PubMed: Jap 2011 family F - China - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.1735g>a p.Gly579Arg Unknown - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Kinoshita 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Fam9Pat15 PubMed: Kinoshita 2012 - F - Japan - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Maternal (confirmed) - pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Zheng 2020 - - Germline - - - - - DNA SEQ - - XLHR HR20 PubMed: Zheng 2020 mother/sib M - China - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A c.2416G>A - PHEX_000139 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXXPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A g.22219070G>A c.2416G>A - PHEX_000139 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXXXVIPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Parent #1 - pathogenic g.22237187G>A g.22219070G>A G1735>A - PHEX_000139 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2000, PubMed: Pronicka 2004 family - - Poland - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.spl p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Boukpessi 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Pat7 PubMed: Boukpessi 2017 - M - France - - - - - 1 Johan den Dunnen
+?/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic (dominant) g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Song 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR Pat2 PubMed: Song 2013 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - likely pathogenic (dominant) g.22237187G>A - - - PHEX_000139 - PubMed: Martin Ramos 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR Pat5 PubMed: Martin Ramos 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A - 2301G>A (Gly579Arg) - PHEX_000139 - PubMed: Martos Moreno 2016 - - De novo - - - - - DNA SEQ - - HR Pat2 PubMed: Martos Moreno 2016 2-generation family, 1 affected, unaffected non-carrier parents - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Imel 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - HL - PubMed: Imel 2010 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Maternal (confirmed) - pathogenic (dominant) g.22237187G>A - - - PHEX_000139 - PubMed: Joel 2010 - - Germline yes - - - - DNA SEQ - - HPS3 FamPatXY2 PubMed: Joel 2010 3-generation family, affected gransfather, mother, son M - Belgium - - - - - 3 Johan den Dunnen
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A - - - PHEX_000139 - PubMed: Radlovic 2014 - - De novo - - - - - DNA SEQ - - HR patient PubMed: Radlovic 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Serbia - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic (dominant) g.22237187G>A - - - PHEX_000139 - PubMed: Galvez-Ruiz 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR patient PubMed: Galvez-Ruiz 2013 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. 17 c.1735G>A r.(?) p.(Gly579Arg) Unknown ACMG pathogenic g.22237187G>A g.22219070G>A - - PHEX_000139 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A - - - PHEX_000139 - - - rs875989883 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1735G>A r.(?) p.(Gly579Arg) Unknown - pathogenic g.22237187G>A - - - PHEX_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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