Genomic variant #0000321619

Chromosome 10
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76735218G>A
DNA change (hg38) -
Published as KAT6B:NM_001256468.1:c.1123G>A, NM_001256469.1:c.1117+6G>A, …
ISCN -
DB-ID KAT6B_000054
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_001256468.1 -?/. - c.1123G>A likely benign r.(?) p.(Gly375Ser)
KAT6B NM_001256469.1 -?/. - c.1117+6G>A likely benign r.(=) p.(=)
KAT6B NM_012330.3 -?/. - c.1123G>A likely benign r.(?) p.(Gly375Ser)