Variant #0000072976 (NC_000017.10:g.42953387G>A, EFTUD2(NM_004247.3):c.784C>T)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42953387G>A
DNA change (hg38) g.44876019G>A
Published as -
ISCN -
DB-ID EFTUD2_000003 See all 5 reported entries
Variant remarks -
Reference PubMed: Smigiel et al.
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +/+? 10 c.784C>T r.(?) p.Arg262Trp