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
Options




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