Variant #0000022966 (NC_000017.10:g.42958013C>T, EFTUD2(NM_004247.3):c.529-1G>A)

Individual ID 00004134
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42958013C>T
DNA change (hg38) g.44880645C>T
Published as -
ISCN -
DB-ID EFTUD2_000037
Variant remarks -
Reference Lehalle et al 2014
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 Christopher Gordon
Database submission license No license selected
Created by Christopher Gordon
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +?/? 7i c.529-1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000004060 DNA SEQ - - EFTUD2 1 Christopher Gordon