Variant #0000474391 (NC_000019.9:g.11488875_11488876del, EPOR(NM_000121.3):c.1311_1312del)

Individual ID 00230983
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.11488875_11488876del
DNA change (hg38) g.11378199_11378200del
Published as 1311_1312delTC
ISCN -
DB-ID EPOR_000001 See all 2 reported entries
Variant remarks EPOR protein truncated for 77 amino acids
Reference {GenBankJQ821734.1}
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.1311_1312del r.(?) p.(Pro438Metfs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232079 DNA SEQ - - EPOR 1 Celeste Bento