Full data view for gene LDB3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. 5 c.566C>T r.(?) p.(Ser189Leu) Maternal (confirmed) - pathogenic (dominant) g.88441437C>T g.86681680C>T 587C>T (S196L) - LDB3_000009 not in 400 control chromosomes PubMed: Vatta 2003, OMIM:var0005 - - Germline - - - 0 - DNA DHPLC, SEQ - - CMD - PubMed: Vatta 2003 affected mother, 2 brothers and nephew M - United States - >40y 0 - - 5 Johan den Dunnen
+/. 5 c.566C>T r.566c>u p.Ser189Leu Unknown - pathogenic (dominant) g.88441437C>T g.86681680C>T - - LDB3_000009 expression cloning COS7 cells, reduced binding to PGM2 PubMed: Arimura 2009 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Arimura 2009 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - likely benign g.88441437C>T g.86681680C>T LDB3(NM_001080114.1):c.321+1523C>T (p.(=)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - likely benign g.88441437C>T g.86681680C>T LDB3(NM_001080114.1):c.321+1523C>T (p.(=)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - likely benign g.88441437C>T g.86681680C>T LDB3(NM_001080114.1):c.321+1523C>T (p.(=)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - VUS g.88441437C>T g.86681680C>T LDB3(NM_001080114.1):c.321+1523C>T (p.(=)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566C>T r.(?) p.(Ser189Leu) Unknown - likely benign g.88441437C>T g.86681680C>T LDB3(NM_001080114.1):c.321+1523C>T (p.(=)), LDB3(NM_001171610.2):c.566C>T (p.S189L) - LDB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.566C>T r.(?) p.(Ser189Leu) Parent #1 - VUS g.88441437C>T g.86681680C>T - - LDB3_000009 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45487699 Germline - 4/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
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