Full data view for gene PHEX

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

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T g.22190458C>T Pro534Leu - PHEX_000027 - PubMed: Quinlan 2012 - - Germline - - - - - DNA SEQ Blood - XLHR Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - - - - 1 Yves Sabbagh
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T g.22190458C>T Pro534Leu - PHEX_000027 - PubMed: Quinlan 2012 - - Germline - - - - - DNA SEQ Blood - XLHR Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - - - - 1 Yves Sabbagh
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Chesher 2018 - - Germline - - - - - DNA SEQ - - XLHR - PubMed: Chesher 2018 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Beck-Nielsen 2012 - - Germline - - - - - DNA DHPLC, SEQ - - XLHR Fam9 PubMed: Beck-Nielsen 2012 - F - Denmark - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Dixon 1998 - - Germline - - - - - DNA SSCA, SEQ - - XLHR - PubMed: Dixon 1998 - - - United States African-American - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Dixon 1998 - - Germline - - - - - DNA SSCA, SEQ - - XLHR - PubMed: Dixon 1998 - - - - Europe-N - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Rowe 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR AJ24 PubMed: Rowe 1997 - - - France - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Rowe 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR CM98 PubMed: Rowe 1997 - - - France - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR AB1 PubMed: Holm 2001 family, 2 affected F - United States - - - - - 2 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Paternal (confirmed) - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR AB2 PubMed: Holm 2001 son M - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Holm 2001 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR 123-03 PubMed: Holm 2001 daughter F - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T 1601C>T, P534L - PHEX_000027 - PubMed: Francis 1997 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR 333Pat4913 PubMed: Francis 1997 - F - Germany - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T 1601C>T, P534L - PHEX_000027 - PubMed: Francis 1997 - - Germline/De novo (untested) - - - - - DNA SSCA, SEQ - - XLHR 351Pat8496 PubMed: Francis 1997 - F - Germany - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T C1601T - PHEX_000027 - PubMed: Filisetti 1999 - - Germline - - - - - DNA SSCA, SEQ - - XLHR FA66 PubMed: Filisetti 1999 family M - - Europe - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2000 from PHEXdb-MutID71, PubMed: Pronicka 2004 - - - Poland - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic g.22208575C>T g.22190458C>T P534L - PHEX_000027 - PubMed: Popowska 2001 from PHEXdb-MutID71 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2001 from PHEXdb-MutID71 - - - Poland - - - - - 1 Johan den Dunnen
+?/. 15 c.1601C>T r.1601c>u p.Pro534Leu Unknown - likely pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Cho 2005, PubMed: Park 2021 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XLHR Pat1 PubMed: Cho 2005, PubMed: Park 2021 family F - Korea - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Gaucher 2009 - - Germline - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 family - - France - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Song 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Fam2Pat1 PubMed: Song 2007 proband F - Korea - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Ruppe 2011 - - Germline - - - - - DNA SEQ - analysis PHEX, FGF23, DMP1 XLHR Fam12 PubMed: Ruppe 2011 - - - United States - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Zheng 2020 - - De novo - - - - - DNA SEQ - - XLHR HR55 PubMed: Zheng 2020 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T c.2282C>T - PHEX_000027 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXIXPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T c.2282C>T - PHEX_000027 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXXXIIPat1 PubMed: Rodriguez-Rubio 2021 index M - Spain - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Parent #1 - pathogenic g.22208575C>T g.22190458C>T C1601>T - PHEX_000027 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2000, PubMed: Pronicka 2004 family - - Poland - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Acar 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamIIIPat2 PubMed: Acar 2018 2-generation family, affected mother/2 sibs F - Turkey - - - - - 3 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Maternal (confirmed) - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Acar 2018 - - Germline - - - - - DNA SEQ - - XLHR FamIIIPat3 PubMed: Acar 2018 sib F - Turkey - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Maternal (confirmed) - pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Acar 2018 - - Germline - - - - - DNA SEQ - - XLHR FamIIIPat4 PubMed: Acar 2018 sib M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Paternal (confirmed) - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Marik 2018 - - Germline yes - - - - DNA SEQ - - XLHR Pat5 PubMed: Marik 2018 family, 4 affected F;M - India - - - - - 4 Johan den Dunnen
+?/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - likely pathogenic (dominant) g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Maternal (confirmed) - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Kang 2012 - - Germline yes - - - - DNA SEQ - - HR Fam1 PubMed: Kang 2012 3-generation family, 3 affected (3F) F - China - - - - - 3 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: McKenna 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - HR Pat9 PubMed: McKenna 2019 - F - Ireland - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: McKenna 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - HR Pat12 PubMed: McKenna 2019 - F - Ireland - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: McKenna 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - HR Pat13 PubMed: McKenna 2019 - F - Ireland - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Lee 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR Pat1 PubMed: Lee 2012 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Grove-Laugesen 2014 - - Germline - - - - - DNA SEQ - - HR patient PubMed: Grove-Laugesen 2014 - F - Denmark - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Yavropoulou 2010 - - Germline - - - - - DNA SEQ - - HR patient PubMed: Yavropoulou 2010 - F - Greece - - - - - 1 Johan den Dunnen
+/. - c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic (dominant) g.22208575C>T - - - PHEX_000027 - PubMed: Forero-Delgadillo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES HR patient PubMed: Forero-Delgadillo 2020 - F - Colombia - - - - - 1 Johan den Dunnen
+/. 15 c.1601C>T r.(?) p.(Pro534Leu) Unknown ACMG pathogenic g.22208575C>T g.22190458C>T - - PHEX_000027 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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