Variant #0000474379 (NC_000019.9:g.11488903del, EPOR(NM_000121.3):c.1285del)

Individual ID 00230971
Chromosome 19
Allele Maternal (confirmed)
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.11488903del
DNA change (hg38) g.11378227del
Published as 1285delC
ISCN -
DB-ID EPOR_000013
Variant remarks EPOR protein - introduction of 23 aa followed by a premature stop codon
Reference PubMed: Al-Sheikh 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Celeste Bento
Database submission license No license selected
Created by Celeste Bento
Date created 2012-08-09 14:17:36 +02:00 (CEST)
Date last edited 2020-07-15 12:23:21 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 +/+ 8 c.1285del r.(?) p.(Leu429Trpfs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232067 DNA SEQ - - EPOR 1 Celeste Bento