Variant #0000698422 (NC_000010.10:g.102509534_102509535dup, PAX2(NM_003990.3):c.75_76dup)

Individual ID 00315096
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.102509534_102509535dup
DNA change (hg38) g.100749777_100749778dup
Published as -
ISCN -
DB-ID PAX2_000007
Variant remarks -
Reference PubMed: Amiel 2000
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX2 NM_003990.3 +/+ 2 c.75_76dup r.(?) p.(Val26Glyfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316272 DNA SEQ - - PAX2 1 Matthew Bower