Unique variants in gene KAT2A

Information The variants shown are described using the NM_021078.2 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.8A>C VUS r.(?) p.(Glu3Ala) g.40273315T>G - KAT2A(NM_021078.2):c.8A>C (p.(Glu3Ala)) - KAT2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1181-33_1186del likely benign r.spl? p.? g.40270053_40270091del - KAT2A(NM_021078.2):c.1181-33_1186del (p.?) - chr17_006113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2369G>A likely benign r.(?) p.(Arg790Gln) g.40265812C>T - KAT2A(NM_021078.2):c.2369G>A (p.(Arg790Gln)) - chr17_006112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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