Variant #0000400755 (NC_000010.10:g.76784949_76784952del, NM_012330.3:c.3606_3609del (KAT6B))

Individual ID 00176989
Chromosome 10
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.76784949_76784952del
DNA change (hg38) g.75025191_75025194del
Published as MC_000010.11: c.3603_3606del, p.Arg1201fs
ISCN -
DB-ID KAT6B_000097 See all 2 reported entries
Variant remarks -
Reference PubMed: Okano 2018]
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-08-14 21:19:25 +02:00 (CEST)
Date last edited 2020-07-27 12:46:27 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KAT6B NM_001256468.1 ./. - c.3057_3060del r.(?) p.(Thr1020Argfs*21)
KAT6B NM_001256469.1 ./. - c.2730_2733del r.(?) p.(Thr911Argfs*21)
KAT6B NM_012330.3 +?/. - c.3606_3609del r.(?) p.(Thr1203Argfs*21)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000177879 DNA SEQ - - - 1 Philippe Campeau


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