Variant #0000019222 (NC_000017.10:g.[42953384_42953387del;42953388_42953399dup], EFTUD2(NM_004247.3):c.[784_787delCGGC;791_802dupTCCTGGAGCTGA])

Individual ID 00001634
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.[42953384_42953387del;42953388_42953399dup]
DNA change (hg38) -
Published as c.784_787deldup788_799TGATCCTGGAGC
ISCN -
DB-ID EFTUD2_000001
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 Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +/+ 10 c.[784_787delCGGC;791_802dupTCCTGGAGCTGA] r.(?) p.(Arg262*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000001434 DNA SEQ - - EFTUD2 1 Johan den Dunnen