Variant #0000698383 (NC_000010.10:g.102509535dup, PAX2(NM_003990.3):c.76dup)

Individual ID 00315057
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.102509535dup
DNA change (hg38) g.100749778dup
Published as -
ISCN -
DB-ID PAX2_000001 See all 59 reported entries
Variant remarks -
Reference PubMed: Bower 2012
ClinVar ID -
dbSNP ID -
Origin De novo
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 2011-06-17 21:43:14 +02:00 (CEST)
Date last edited 2011-06-20 16:22:29 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX2 NM_003990.3 +/+ 2 c.76dup r.(?) p.(Val26GlyFS*28)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316233 DNA SEQ - - PAX2 1 Matthew Bower