Full data view for gene KMT2D

Information The variants shown are described using the NM_003482.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 31 c.7307_7308insT r.(?) p.(Ser2438Ilefs*11) Parent #1 - pathogenic g.49434245_49434246insA g.49040462_49040463insA 7307_7308insT, (Ser2438Ilefs*11) - KMT2D_000371 - PubMed: Makrythanasis 2013 - - Germline ? - - - - DNA SEQ - - KABUK1 - PubMed: Makrythanasis 2013 - - - - - - - - - 1 Vincent Gatinois
+/. 31 c.7307_7308insT r.(?) p.(Ser2438Ilefs*11) Unknown - pathogenic (dominant) g.49434245_49434246insA g.49040462_49040463insA 7307_7308insT - KMT2D_000371 - PubMed: Karagianni 2016 - - Unknown - - - - - DNA SEQ - - KABUK - PubMed: Karagianni 2016 - - - Greece - - - - - 1 Johan den Dunnen
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