Variant #0000698416 (NC_000010.10:g.102509527del, PAX2(NM_003990.3):c.68del)

Individual ID 00315090
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.102509527del
DNA change (hg38) g.100749770del
Published as -
ISCN -
DB-ID PAX2_000003
Variant remarks -
Reference PubMed: Cunliffe 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Matthew Bower
Database submission license No license selected
Created by Matthew Bower
Date created 2011-06-20 21:15:18 +02:00 (CEST)
Date last edited 2012-01-09 18:23:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX2 NM_003990.3 +/+ 2 c.68del r.(?) p.(Leu23Profs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316266 DNA SEQ - - PAX2 1 Matthew Bower