Variant #0000616866 (NC_000017.10:g.7750001_7750002del, KDM6B(NM_001080424.1):c.654_655del)

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.7750001_7750002del
DNA change (hg38) g.7846683_7846684del
Published as -
ISCN -
DB-ID KDM6B_000069
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/. - c.654_655del r.(?) p.(Glu220GlyfsTer16)