Genomic variant #0000290154

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7750598_7750601del
DNA change (hg38) -
Published as KDM6B(NM_001080424.2):c.1085_1088delAGAG (p.E362Afs*124)
ISCN -
DB-ID KDM6B_000016
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     
KDM6B NM_001080424.1 ?/. - c.1085_1088del VUS r.(?) p.(Glu362Alafs*124)