Full data view for gene PHEX

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, MLPA - - HR - PubMed: Zhang 2019 - - - China - - 0 - - 1 Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ, MLPA - - HR - PubMed: Zhang 2019 - - - China - - 0 - - 1 Johan den Dunnen
+?/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - likely pathogenic (dominant) g.(22212959_22219035)_(2248361_?)del g.(22231076_22237152)_(22251310_?)del del ex 17-22 - PHEX_000521 - PubMed: Obara-Moszynska 2020 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - HR Pat3 PubMed: Obara-Moszynska 2020 - M - Poland - - 0 - - 1 Johan den Dunnen
+/? 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del - - PHEX_000521 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Parent #1 - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Francis 1997 - - Germline - - - 0 - DNA SSCA, SEQ - - XLHR 314Pat4004 PubMed: Francis 1997 - M - Germany - - 0 - - 1 Johan den Dunnen
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