Genomic variant #0000038939

Individual ID 00018489
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76788787_76788788del
DNA change (hg38) g.75029029_75029030del
Published as -
ISCN -
DB-ID KAT6B_000010 See all 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jill Clayton-Smith




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_012330.3 +?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)



Screenings

Stop! No screenings found!