Genomic variant #0000328882

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.19435274dup
DNA change (hg38) -
Published as C22orf39(NM_001166242.1):c.52_53insT (p.?)
ISCN -
DB-ID C22orf39_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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
UFD1L NM_001035247.2 ?/. - c.*2992dup VUS r.(?) p.(=)
C22orf39 NM_173793.4 ?/. - c.52dup VUS r.(?) p.(Ser18Phefs*10)