Variant #0000949447 (NC_000010.10:g.76784798C>G, NM_012330.3:c.3455C>G (KAT6B))

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.76784798C>G
DNA change (hg38) -
Published as KAT6B(NM_001256468.1):c.2906C>G (p.(Thr969Arg))
ISCN -
DB-ID KAT6B_000199
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) 5.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KAT6B NM_001256468.1 -?/. - c.2906C>G r.(?) p.(Thr969Arg)
KAT6B NM_001256469.1 -?/. - c.2579C>G r.(?) p.(Thr860Arg)
KAT6B NM_012330.3 -?/. - c.3455C>G r.(?) p.(Thr1152Arg)


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