Full data view for gene DES

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_001927.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.638C>T r.(?) p.(Ala213Val) Unknown - benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.638C>T r.(?) p.(Ala213Val) Unknown - benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638C>T r.(?) p.(Ala213Val) Unknown - likely benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.638C>T r.(?) p.(Ala213Val) Unknown - benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - likely benign g.220284876C>T g.219420154C>T 730T>C - DES_000020 - PubMed: Taylor 2007 - rs41272699 Germline - - - - - DNA DHPLC, SEQ - - ? ? PubMed: Taylor 2007 - - - United States - - - - - 6 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - likely benign g.220284876C>T g.219420154C>T 730T>C - DES_000020 control chromosomes PubMed: Taylor 2007 - rs41272699 Germline - 2/172 - - - DNA DHPLC, SEQ - - Healthy/Control ? PubMed: Taylor 2007 - - - United States - - - - - 2 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - likely benign g.220284876C>T g.219420154C>T 730T>C - DES_000020 dos not seggregate with disease PubMed: Taylor 2007 - rs41272699 Germline - - - - - DNA DHPLC, SEQ - - CMD ? PubMed: Taylor 2007 absent in 1 affected, present in 4 unaffecteds - - United States - - - - - 6 Johan den Dunnen
+/. 2 c.638C>T r.(?) p.(Ala213Val) Maternal (confirmed) - pathogenic g.220284876C>T g.219420154C>T - - DES_000020 alpha-glucosidase c.271A>G (M), c.781G>A (F) PubMed: Goudeau 2006 - rs41272699 Germline - - - - - DNA DHPLC, SEQ - - MYOP ? PubMed: Goudeau 2006 - - - Netherlands - - - - - 1 Johan den Dunnen
+?/. 2 c.638C>T r.(?) p.(Ala213Val) Unknown - likely pathogenic g.220284876C>T g.219420154C>T Ala213Val - DES_000020 probably low penetrance disease associated variant PubMed: Goldfarb 2004 Bowles 2002 - rs41272699 Germline - - - - - DNA SEQ - - MYOP ? PubMed: Goldfarb 2004 Bowles 2002 2 unrelated patients - - (Netherlands) - - - - - 2 Johan den Dunnen
+/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - pathogenic g.220284876C>T g.219420154C>T - - DES_000020 - PubMed: Goudeau 2006 - rs41272699 Germline - - - - - DNA DHPLC, SEQ - - CMD ? PubMed: Goudeau 2006 - - - Russia - - - - - 1 Johan den Dunnen
+?/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - likely pathogenic g.220284876C>T g.219420154C>T Ala213Val - DES_000020 - PubMed: Kostareva 2006 - rs41272699 Germline/De novo (untested) - 1/98 patients - - - DNA SEQ - - CMD ? PubMed: Kostareva 2006 - - - Russia - - - - - 1 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Unknown - likely benign g.220284876C>T g.219420154C>T Ala213Val - DES_000020 - PubMed: Kostareva 2011 - rs41272699 Germline/De novo (untested) - 5/108 patients - - - DNA SEQ - - CMD ? PubMed: Kostareva 2011 108 patients - - Russia - - - - - 5 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Unknown - likely benign g.220284876C>T g.219420154C>T Ala213Val - DES_000020 - PubMed: Kostareva 2011 - rs41272699 Germline/De novo (untested) - 3/300 controls - - - DNA SEQ - - Healthy/Control ? PubMed: Kostareva 2011 300 controls - - Russia - - - - - 3 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Unknown - likely benign g.220284876C>T g.219420154C>T - - DES_000020 not in 364 control chromosomes PubMed: Goudeau 2006 - rs41272699 Germline/De novo (untested) - 4/398 chromosomes - - - DNA SEQ - - Healthy/Control ? PubMed: Goudeau 2006 199 controls - - - - - - - - 4 Johan den Dunnen
-?/. 2 c.638C>T r.(?) p.(Ala213Val) Parent #1 - likely benign g.220284876C>T g.219420154C>T - - DES_000020 not in 364 control chromosomes PubMed: Zimmerman 2010 - rs41272699 Germline/De novo (untested) - 1/73 cases - - - DNA SEQ - - CMD ? PubMed: Zimmerman 2010 - - - United States African black - - - - 1 Johan den Dunnen
?/. 2 c.638C>T r.(?) p.Ala213Val Unknown - NA g.220284876C>T g.219420154C>T - - DES_000020 cloned in pcDNA3, expressed in SW13 and C2C12 cells; DES normal PubMed: Goudeau 2006 - rs41272699 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638C>T r.(?) p.(Ala213Val) Unknown - likely benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.638C>T r.(?) p.(Ala213Val) Unknown - benign g.220284876C>T g.219420154C>T DES(NM_001382708.1):c.636+2C>T (p.(Ala213Val)), DES(NM_001927.3):c.638C>T (p.A213V), DES(NM_001927.4):c.638C>T (p.A213V) - DES_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.638C>T r.(?) p.(Ala213Val) Parent #1 - VUS g.220284876C>T g.219420154C>T - - DES_000020 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41272699 Germline - 9/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.638C>T r.(?) p.(Ala213Val) Unknown - VUS g.220284876C>T - - - DES_000020 - PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat160a;A9(II2) PubMed: Fichna 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/ F - Poland - - - - - 2 Johan den Dunnen
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