Variant #0000455054 (NC_000019.9:g.40903346dup, PRX(NM_181882.2):c.913dup)

Individual ID 00219074
Chromosome 19
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40903346dup
DNA change (hg38) g.40397439dup
Published as 913dupA
ISCN -
DB-ID PRX_000078
Variant remarks ACMG pvs1, pm2
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency 1/612 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRX NM_181882.2 +/. - c.913dup r.(?) p.(Thr305Asnfs*48)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220146 DNA SEQ;SEQ-NG - targeted multigene panel PRX 2 Johan den Dunnen