Variant #0000351603 (NC_000019.9:g.40902215C>A, PRX(NM_181882.2):c.2044G>T)

Individual ID 00151911
Chromosome 19
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.40902215C>A
DNA change (hg38) g.40396308C>A
Published as -
ISCN -
DB-ID PRX_000008
Variant remarks -
Reference PubMed: Marchesi 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 +/. 7 c.2044G>T r.(?) p.(Glu682*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000152768 DNA SEQ - - PRX 1 Johan den Dunnen