Genomic variant #0000563374

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.7754993G>A
DNA change (hg38) g.7851675G>A
Published as KDM6B(NM_001080424.2):c.4044G>A (p.L1348=)
ISCN -
DB-ID KDM6B_000068
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) 0.4108 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KDM6B NM_001080424.1 -/. - c.4044G>A r.(?) p.(Leu1348=)
TMEM88 NM_203411.1 -/. - c.-3400G>A r.(?) p.(=)