Variant #0000020570 (NC_000017.10:g.(40317000_40318000)_(40341000_40342000)del, EFTUD2(NM_004247.3):c.(-9700_-8742)_(350+150_351-400)del)

Individual ID 00002427
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.(40317000_40318000)_(40341000_40342000)del
DNA change (hg38) -
Published as NCBI36 chr17:40.319-40.353 Mbp del
ISCN -
DB-ID EFTUD2_000011
Variant remarks >23 kb deletion
Reference PubMed: Gordon 2012, Journal: Gordon 2012
ClinVar ID -
dbSNP ID -
Origin De novo
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 +/+ _1_4i c.(-9700_-8742)_(350+150_351-400)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000002301 DNA arrayCGH - - EFTUD2 1 Dennis E. Bulman