Full data view for gene PHEX

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

32 entries on 1 page. Showing entries 1 - 32.
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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     
+?/. 14i c.1586+6T>C r.[1483_1586del,=] p.[Ile495Valfs*52,=] Unknown - NA g.22196499T>C g.22178382T>C - - PHEX_000028 variant analysed in mini-gene expression construct PubMed: BinEssa 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1586+6T>C r.(?) p.? Unknown - pathogenic (dominant) g.22196499T>C g.22178382T>C - - PHEX_000028 - PubMed: Imel 2010 - - Germline/De novo (untested) - - - - - DNA SEQ - - HL - PubMed: Imel 2010 - - - United States - - - - - 1 Johan den Dunnen
+?/. 14i c.1586+6T>C r.spl? p.(?) Unknown - likely pathogenic g.22196499T>C g.22178382T>C - - PHEX_000028 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.1645+1G>A r.(?) p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Quinlan 2012 - - Germline - - - - - DNA SEQ Blood - XLHR Pat? PubMed: Quinlan 2012 - F ? United Kingdom (Great Britain) - - - - - 1 Yves Sabbagh
+/. - c.1645+1G>A r.spl? p.? Unknown - pathogenic g.22208620G>A - PHEX(NM_000444.6):c.1645+1G>A - PHEX_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Morey 2011 - - Germline - - - - - DNA SEQ - - XLHR Pat23 PubMed: Morey 2011 - M - Spain - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Beck-Nielsen 2012 - - Germline - - - - - DNA DHPLC, SEQ - - XLHR Fam6 PubMed: Beck-Nielsen 2012 - F - Denmark - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR T1 PubMed: Holm 2001 family, 3 affected F - United States - - - - treatment started within 1y of diagnosis 3 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR T2 PubMed: Holm 2001 son M - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR T3 PubMed: Holm 2001 daughter F - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Gaucher 2009 - - Germline - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 family - - France - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Durmaz 2013 - - De novo - - - - - DNA SEQ - - XLHR Fam4Pat3 PubMed: Durmaz 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR PatL1 PubMed: Ichikawa 2008 - - - United States - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Park 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Pat25 PubMed: Park 2021 - F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.(1645_1646ins[a;1645+2_1645+74]) p.(Phe550Glufs*20) Unknown - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Zheng 2020 - - De novo - - - - - DNA SEQ - - XLHR HR09 PubMed: Zheng 2020 patient M - China - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.(1645_1646ins[a;1645+2_1645+74]) p.(Phe550Glufs*20) Unknown - pathogenic g.22208620G>A g.22190503G>A IVS15+1G>A - PHEX_000028 - PubMed: Zheng 2020 - - De novo - - - - - DNA SEQ - - XLHR HR17 PubMed: Zheng 2020 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXVPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic g.22208620G>A g.22190503G>A IVS15+1g>a - PHEX_000028 - PubMed: Popowska 2000, PubMed: Pronicka 2004 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR - PubMed: Popowska 2000, PubMed: Pronicka 2004 patient - - Poland - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.1645_1646ins[a;1645+2_1645+75] p.Arg549HisfsTer21 Unknown - NA g.22208620G>A g.22190503G>A - - PHEX_000028 variant analysed in mini-gene expression construct PubMed: BinEssa 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.1645+1G>A r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.22208620G>A - - - PHEX_000028 - PubMed: Fratzl-Zelman 2020 - - Germline yes - - - - DNA SEQ - - HR family PubMed: Fratzl-Zelman 2020 2-generation family, 3 affected (mother, son, daughter) F;M - Austria - - - - - 3 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+?/. 15i c.1645+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Obara-Moszynska 2020 - - Germline - - - - - DNA SEQ - - HR Pat2 PubMed: Obara-Moszynska 2020 2-generation family, affeced mother/daughter F - Poland - - - - - 2 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A hg38 g.22190503G>A - PHEX_000028 - PubMed: Hernandez-Frias 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR FamXPat1 PubMed: Hernandez-Frias 2019 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Rauch 2014 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel HR PatV35 PubMed: Rauch 2014 - - - Canada - - - - - 1 Johan den Dunnen
+/. - c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A - - - PHEX_000028 - PubMed: Liu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR patient PubMed: Liu 2014 - - - China - - - - - 2 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: McKenna 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - HR Pat1 PubMed: McKenna 2019 - F - Ireland - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown - pathogenic (dominant) g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: McKenna 2019 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - HR Pat11 PubMed: McKenna 2019 - F - Ireland - - - - - 1 Johan den Dunnen
+/. 15i c.1645+1G>A r.spl p.? Unknown ACMG pathogenic g.22208620G>A g.22190503G>A - - PHEX_000028 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.1645+6T>C r.1645_1646ins[gugagc;1645+76_1645+75] p.Phe550GlufsTer20 Unknown - NA g.22208625T>C g.22190508T>C - - PHEX_000028 variant analysed in mini-gene expression construct PubMed: BinEssa 2019 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 15i c.1645+6T>C r.spl? p.(?) Unknown - likely pathogenic g.22208625T>C g.22190508T>C - - PHEX_000028 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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