Genomic variant #0000325156

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.7481660A>C
DNA change (hg38) g.7578342A>C
Published as EIF4A1(NM_001204510.1):c.1015A>C (p.(Asn339His))
ISCN -
DB-ID EIF4A1_000003
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CD68 NM_001251.2 ?/. - c.-1336A>C r.(?) p.(=)
EIF4A1 NM_001416.3 ?/. - c.1077A>C r.(?) p.(Arg359Ser)
MPDU1 NM_004870.3 ?/. - c.-5521A>C r.(?) p.(=)
SENP3 NM_015670.5 ?/. - c.*6859A>C r.(=) p.(=)
SENP3-EIF4A1 NR_037926.1 ?/. - n.3639A>C r.(?) -