Variant #0000659491 (NC_000017.10:g.42953314T>C, EFTUD2(NM_004247.3):c.857A>G)

Individual ID 00295673
Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42953314T>C
DNA change (hg38) g.44875946T>C
Published as -
ISCN -
DB-ID EFTUD2_000122
Variant remarks -
Reference Journal: Thomas 2020
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 Huw Thomas
Database submission license No license selected
Created by Huw Thomas
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +/. 10 c.857A>G r.spl p.(Asn286Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296845 DNA ? - - EFTUD2 1 Huw Thomas