Variant #0000474383 (NC_000019.9:g.11488725G>A, EPOR(NM_000121.3):c.1462C>T)

Individual ID 00230975
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.11488725G>A
DNA change (hg38) g.11378049G>A
Published as -
ISCN -
DB-ID EPOR_000015 See all 2 reported entries
Variant remarks -
Reference PubMed: Sokol L 1994
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency 1/40 chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00784 View details
Owner Celeste Bento
Database submission license No license selected
Created by Celeste Bento
Date created 2012-08-09 18:21:52 +02:00 (CEST)
Date last edited 2012-08-14 19:26:32 +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.1462C>T r.(?) p.(Pro488Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232071 DNA SEQ - - EPOR 1 Celeste Bento