Full data view for gene KAT6B

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+?/. 16 c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3147G>A - r.(spl?) p.(?) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - M - - - - 0 - - 1 Jill Clayton-Smith
+?/. 16 c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A g.75022006G>A - - KAT6B_000026 - - - - De novo - - - 0 - DNA SEQ - - SBBYSS - - - F no United Kingdom (Great Britain) - - 0 - - 1 Jill Clayton-Smith
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1049Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 1 in report PubMed: [1] - F no - - - 0 - - 1 Philippe Campeau
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1050Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 2 in report PubMed: [Yilmaz 2015] - F yes - - - 0 - - 1 Philippe Campeau
+?/. - c.3147G>A - r.(=) p.(=) Unknown g.76781764G>A - c.3147G>A, p.(Pro1051Pro) - KAT6B_000026 - PubMed: [Yilmaz 2015] - - De novo - - - 0 - DNA PCR - - - Patient 3 in report PubMed: [Yilmaz 2015] - F no - - - 0 - - 1 Philippe Campeau
Legend