Genomic variant #0000038958

Individual ID 00018508
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.76780981T>C
DNA change (hg38) g.75021223T>C
Published as -
ISCN -
DB-ID KAT6B_000031
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jill Clayton-Smith




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
KAT6B NM_012330.3 ?/. 18 c.2959T>C - r.(?) p.(Trp987Arg)



Screenings

Stop! No screenings found!