Variant #0000020562 (NC_000017.10:g.42940078T>C, EFTUD2(NM_004247.3):c.1607+3A>G)

Individual ID 00002420
Chromosome 17
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.42940078T>C
DNA change (hg38) g.44862710T>C
Published as p.Tyr537fs*25
ISCN -
DB-ID EFTUD2_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Lines et al. 2012
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Dennis E. Bulman
Database submission license No license selected
Created by Dennis E. Bulman
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +/+ i16 c.1607+3A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002294 DNA SEQ - - EFTUD2 1 Dennis E. Bulman