Full data view for gene KAT6B

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - De novo - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - Unknown - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - - - - De novo - - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - M ? ? (unknown) ? - 0 - - 1 Philippe Campeau
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) Unknown g.76788787_76788788del g.75029029_75029030del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - - Unknown ? - - 0 - DNA SEQ - - SBBYSS - PubMed: Clayton-Smith et al. - F ? ? (unknown) ? - 0 - - 1 Philippe Campeau
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