Full data view for gene DLG5

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
?/. - c.304+28446A>T r.(=) p.(=) Both (homozygous) - VUS g.79657529T>A g.77897771T>A - - DLG5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.305-28373C>A r.(=) p.(=) Both (homozygous) - VUS g.79657328G>T g.77897570G>T - - DLG5_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.419A>G r.(?) p.(Gln140Arg) Unknown - benign g.79616605T>C g.77856847T>C DLG5(NM_004747.4):c.419A>G (p.Q140R) - DLG5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.497G>A r.(?) p.(Arg166His) Paternal (confirmed) - likely pathogenic (recessive) g.79616527C>T - - - DLG5_000006 - PubMed: Marquez 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? FamIIIPat2-1 PubMed: Marquez 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe - 0 - - 1 Johan den Dunnen
+?/. - c.745C>T r.(?) p.(Arg249Trp) Unknown - likely pathogenic (dominant) g.79613231G>A - - - DLG5_000008 - PubMed: Marquez 2021 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? FamIPat2-1 PubMed: Marquez 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - 0 - - 1 Johan den Dunnen
-?/. - c.900C>T r.(?) p.(Asn300=) Unknown - likely benign g.79603429G>A - DLG5(NM_004747.3):c.900C>T (p.N300=) - DLG5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2289+13_2289+19del r.(=) p.(=) Unknown - likely benign g.79588623_79588629del g.77828865_77828871del DLG5(NM_004747.4):c.2289+13_2289+19delGCTGGAG - DLG5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2461C>T r.(?) p.(Arg821*) Both (homozygous) - likely pathogenic (recessive) g.79581781G>A - - - DLG5_000009 - PubMed: Marquez 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? FamIVPat2-1 PubMed: Marquez 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - 0 - - 1 Johan den Dunnen
+?/. - c.3214C>T r.(?) p.(Arg1072Cys) Maternal (confirmed) - likely pathogenic (recessive) g.79581028G>A - - - DLG5_000007 - PubMed: Marquez 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? FamIIIPat2-1 PubMed: Marquez 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - Europe - 0 - - 1 Johan den Dunnen
-?/. - c.3372T>A r.(?) p.(Ala1124=) Unknown - likely benign g.79580870A>T - DLG5(NM_004747.3):c.3372T>A (p.A1124=) - DLG5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4526_4527delinsTT r.(?) p.(Gln1509Leu) Unknown - likely pathogenic (dominant) g.79569425_79569426delinsAA - 4526AG>TT - DLG5_000010 - PubMed: Marquez 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? FamIIPat1-1 PubMed: Marquez 2021 2-generation family, affected,affected father/son M - - Europe - 0 - - 2 Johan den Dunnen
+?/. - c.4526_4527delinsTT r.(?) p.(Gln1509Leu) Paternal (confirmed) - likely pathogenic (dominant) g.79569425_79569426delinsAA - 4526AG>TT - DLG5_000010 - PubMed: Marquez 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - ? FamIIPat2-1 PubMed: Marquez 2021 son M - - Europe - 0 - - 1 Johan den Dunnen
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