All variants in the DLG5 gene

Information The variants shown are described using the NM_004747.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+?/. - c.4526_4527delinsTT r.(?) p.(Gln1509Leu) - likely pathogenic (dominant) g.79569425_79569426delinsAA - 4526AG>TT - DLG5_000010 - PubMed: Marquez 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.4526_4527delinsTT r.(?) p.(Gln1509Leu) - likely pathogenic (dominant) g.79569425_79569426delinsAA - 4526AG>TT - DLG5_000010 - PubMed: Marquez 2021 - - Germline - - - 0 - Johan den Dunnen
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