Full data view for gene PHEX

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

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. 22 c.*58C>T r.(?) p.(=) Parent #2 - VUS g.22266128C>T g.22248011C>T - - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatA1 PubMed: Ichikawa 2008 - - - United States African-American - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatB1 PubMed: Ichikawa 2008 - - - United States white - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatC1 PubMed: Ichikawa 2008 - - - United States white - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatD1 PubMed: Ichikawa 2008 - - - United States white - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatE1 PubMed: Ichikawa 2008 - - - United States white - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatF1 PubMed: Ichikawa 2008 - - - United States white - 0 - - 1 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) Parent #1 - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - XLHR PatG1/G2 PubMed: Ichikawa 2008 - - - United States white - 0 - - 2 Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(?) Unknown - VUS g.22266128C>T g.22248011C>T - - PHEX_000362 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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