Variant #0000474375 (NC_000019.9:g.11488890_11488896del, EPOR(NM_000121.3):c.1299_1305del)

Individual ID 00230967
Chromosome 19
Allele Paternal (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.11488890_11488896del
DNA change (hg38) g.11378214_11378220del
Published as 1299_1305delCCCAGCT
ISCN -
DB-ID EPOR_000009 See all 2 reported entries
Variant remarks EpoR peptide that is truncated by 59 amino acids
Reference PubMed: Kralovics 1977; PubMed: Arcasoy 1997
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site +(RsaI)
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 2012-08-08 16:47:10 +02:00 (CEST)
Date last edited 2020-07-15 12:23:19 +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.1299_1305del r.(?) p.(Gln434Cysfs*17)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232063 DNA SEQ - - EPOR 1 Celeste Bento