Variant #0000474387 (NC_000019.9:g.11488900dup, EPOR(NM_000121.3):c.1288dup)

Individual ID 00230979
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.11488900dup
DNA change (hg38) g.11378224dup
Published as 5974insG
ISCN -
DB-ID EPOR_000017
Variant remarks Truncated EPOR protein lacking the last 64 amino acids of the C-terminal domain
Reference PubMed: Sokol L 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 4/84 chromosomes
Re-site BsmFI+
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 2012-08-10 13:44:57 +02:00 (CEST)
Date last edited 2020-07-15 12:23:20 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 +/+ 8 c.1288dup r.(?) p.(Asp430Glyfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232075 DNA SEQ - - EPOR 1 Celeste Bento