Genomic variant #0000563376

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7755934del
DNA change (hg38) -
Published as KDM6B(NM_001080424.2):c.4590delC (p.D1531Tfs*5)
ISCN -
DB-ID CYB5D1_000003
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KDM6B NM_001080424.1 ?/. - c.4590del VUS r.(?) p.(Asp1531Thrfs*5)
LSMD1 NM_032356.3 ?/. - c.*4118del VUS r.(?) p.(=)
CYB5D1 NM_144607.4 ?/. - c.-5519del VUS r.(?) p.(=)
TMEM88 NM_203411.1 ?/. - c.-2459del VUS r.(?) p.(=)