Genomic variant #0000268785

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.7480963G>A
DNA change (hg38) g.7577645G>A
Published as EIF4A1(NM_001416.4):c.845G>A (p.R282Q)
ISCN -
DB-ID EIF4A1_000002
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD68 NM_001251.2 ?/. - c.-2033G>A r.(?) p.(=)
EIF4A1 NM_001416.3 ?/. - c.845G>A r.(?) p.(Arg282Gln)
MPDU1 NM_004870.3 ?/. - c.-6218G>A r.(?) p.(=)
SENP3 NM_015670.5 ?/. - c.*6162G>A r.(=) p.(=)
SENP3-EIF4A1 NR_037926.1 ?/. - n.3407G>A r.(?) -