Genomic variant #0000321093

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.161187785G>A
DNA change (hg38) -
Published as FCER1G(NM_004106.1):c.59G>A (p.(Gly20Glu))
ISCN -
DB-ID FCER1G_000001
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOA2 NM_001643.1 -?/. - c.*4410C>T likely benign r.(=) p.(=)
FCER1G NM_004106.1 -?/. - c.59G>A likely benign r.(?) p.(Gly20Glu)
NDUFS2 NM_004550.4 -?/. - c.*3802G>A likely benign r.(=) p.(=)
ADAMTS4 NM_005099.4 -?/. - c.-19368C>T likely benign r.(?) p.(=)