Variant #0000698419 (NC_000010.10:g.102509530G>A, PAX2(NM_003990.3):c.71G>A)

Individual ID 00315093
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.102509530G>A
DNA change (hg38) g.100749773G>A
Published as -
ISCN -
DB-ID PAX2_000005
Variant remarks -
Reference PubMed: Thomas 2011
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX2 NM_003990.3 +?/+? 2 c.71G>A r.(?) p.(Gly24Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316269 DNA SEQ - - PAX2 1 Matthew Bower