Variant #0000474380 (NC_000019.9:g.11488727T>C, EPOR(NM_000121.3):c.1460A>G)

Individual ID 00230972
Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11488727T>C
DNA change (hg38) g.11378051T>C
Published as -
ISCN -
DB-ID EPOR_000014 See all 3 reported entries
Variant remarks Probable linkage between the N487S mutation and the erythroid pathology of the patients
Reference PubMed: Le Couedic 1996; PubMed: Al-Sheikh 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 4/126 chromossomes
Re-site BpmI+
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00641 View details
Owner Celeste Bento
Database submission license No license selected
Created by Celeste Bento
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 -?/-? 8 c.1460A>G r.(?) p.(Asn487Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232068 DNA SEQ - - EPOR 1 Celeste Bento