Full data view for gene KAT6B

Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 Mutation inherited from father PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Daughter in report PubMed: [Kim 2017] - F no - - - 0 - - 1 Philippe Campeau
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Father in report PubMed: [Kim 2017] - M - - - - 0 - - 1 Philippe Campeau
+?/. - c.2299C>T - r.(?) p.(His767Tyr) Unknown g.76741612C>T - missense variant c.2292C>T p.(His767Tyr) - KAT6B_000103 - PubMed: [Kim 2017] - - Not applicable - - - 0 - DNA SEQ - - - Uncle in report PubMed: [Kim 2017] - M - - - - 0 - - 1 Philippe Campeau
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