Variant #0000563348 (NC_000017.10:g.7751144G>C, KDM6B(NM_001080424.1):c.1538G>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7751144G>C
DNA change (hg38) g.7847826G>C
Published as KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P)
ISCN -
DB-ID KDM6B_000043 See all 2 reported entries
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 -?/. - c.1538G>C r.(?) p.(Arg513Pro)