Variant #0000275992 (NC_000017.10:g.42941138_42941139del, EFTUD2(NM_004247.3):c.1297_1298del)

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42941138_42941139del
DNA change (hg38) g.44863770_44863771del
Published as EFTUD2(NM_004247.3):c.1297_1298delAT (p.M433Vfs*17)
ISCN -
DB-ID EFTUD2_000060 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EFTUD2 NM_004247.3 +/. - c.1297_1298del r.(?) p.(Met433ValfsTer17)