Variant #0000540975 (NC_000010.10:g.76780910T>A, NM_012330.3:c.2888T>A (KAT6B))

Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.76780910T>A
DNA change (hg38) g.75021152T>A
Published as KAT6B(NM_012330.4):c.2888T>A (p.L963*)
ISCN -
DB-ID KAT6B_000120
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KAT6B NM_001256468.1 +/. - c.2339T>A r.(?) p.(Leu780Ter)
KAT6B NM_001256469.1 +/. - c.2012T>A r.(?) p.(Leu671Ter)
KAT6B NM_012330.3 +/. - c.2888T>A r.(?) p.(Leu963Ter)


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