Variant #0000474378 (NC_000019.9:g.11489045_11489046del, EPOR(NM_000121.3):c.1142_1143del)

Individual ID 00230970
Chromosome 19
Allele Unknown
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.11489045_11489046del
DNA change (hg38) g.11378369_11378370del
Published as 1142_1143delCC
ISCN -
DB-ID EPOR_000012
Variant remarks EpoR peptide truncated by 127 aa
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 +/+ 8 c.1142_1143del r.(?) p.(Pro381Glnfs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232066 DNA SEQ - - EPOR 1 Celeste Bento