Genomic variant #0000401444

Individual ID 00177100
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.76732381_76732385delTTAAA
DNA change (hg38) -
Published as -
ISCN -
DB-ID KAT6B_000104
Variant remarks -
Reference PubMed: [Marangi 2017]
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 Philippe Campeau




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 ./. - c.1045_1049delTTAAA - r.(?) p.(Leu349Alafs*9)
KAT6B NM_001256469.1 ./. - c.1045_1049delTTAAA - r.(?) p.(Leu349Alafs*9)
KAT6B NM_012330.3 +?/. - c.1045_1049delTTAAA - r.(?) p.(Leu349Alafs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000178000 DNA SEQ-NG - - - 1 Philippe Campeau