Variant #0000453961 (NC_000007.13:g.127254537_127254575del, PAX4(NM_006193.2):c.374_412del)

Individual ID 00218051
Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.127254537_127254575del
DNA change (hg38) g.127614483_127614521del
Published as -
ISCN -
DB-ID PAX4_000023
Variant remarks Deletion of 3' part of exon 3 leads to exon 3 skipping. Variant not found in 150 control Japanese subjects.
Reference PubMed: Jo 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jilani Jawaid
Database submission license No license selected
Created by Jilani Jawaid
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PAX4 NM_006193.2 +?/. 3 c.374_412del r.337_412del p.Val113Leufs*69



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000219123 DNA;RNA minigene;PCR;PCRq blood - PAX4 1 Jilani Jawaid