Full data view for gene PAX2

Information The variants shown are described using the NM_003990.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/. - c.754C>T r.(?) p.(Arg252Ter) Unknown - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.754C>T r.(?) p.(Arg252*) Unknown - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual I-1 in both original published reports. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-5 in 2000 publication; individual II-4 in 2001 publication. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-6 in 2001 publication; individual II-7 in 2000 publication. F - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual II-8 in 2001 publication; individual II-9 in 2000 publication. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Maternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-9 in both original published reports. M - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Maternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-11 in both published reports. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Maternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-13 in both published reports. F - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-16 in both published reports. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Porteous 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000, PubMed: Porteous 2001 Individual III-17 in both published reports. M - Brazil - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Unknown - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Father of family 82; patients 2 and 3 M - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Son of family 82; patient 1. Brother of family 82; patient 3. M - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Bower 2012 Son of family 82; patient 1. Brother of family 82; patient 2. Pregnancy with lethal anhydramnios. M - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Fetus of family 82; patient 3. Fetal anhydramnios. - - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Unknown - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 - - - - - - - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (confirmed) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Madariaga 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Madariaga 2013 Patient P2 in manuscript M - - - 0y - - - 1 Matthew Bower
+/+ 7 c.754C>T r.(?) p.(Arg252*) Paternal (inferred) - pathogenic g.102566255C>T g.100806498C>T - - PAX2_000062 - PubMed: Porteous 2000, PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Porteous 2000, PubMed: Bower 2012 Father of patient P2 in manuscript. No clinical findings, but his father and brother have renal hypoplasia with CKD. - - - - - - - - 1 Matthew Bower
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