Full data view for gene PHEX

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. _1_9i c.-681_(1079+1_1080-1){0} r.0? p.0? Parent #1 - pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del del ex1-9 - PHEX_000684 >67 kb deletion PubMed: Clausmeyer 2009 - - Germline - - - 0 - DNA MLPA, SEQ - - XLHR Pat7 PubMed: Clausmeyer 2009 family F - Germany - - 0 - - 1 Johan den Dunnen
+?/. _1_9i c.-681_(1079+1_1080-1){0} r.? p.0? Unknown - likely pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del - - PHEX_000684 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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