Variant #0000325166 (NC_000017.10:g.7750211_7750216dup, KDM6B(NM_001080424.1):c.786_791dup)

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.7750211_7750216dup
DNA change (hg38) g.7846893_7846898dup
Published as KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253dup)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup)
ISCN -
DB-ID KDM6B_000008
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/. - c.786_791dup r.(?) p.(Pro263_Pro264dup)