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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VI-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Cause of death: progressive right ventricle failure F - - 58y - - - - 2 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VI-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >52y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VI-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >43y - - - 3 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VI-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >37y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VII-3 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072172 M - - - >28y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VII-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >18y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 A-VII-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >15y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 B-VI-9 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - 51y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 B-VII-6 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >35y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 B-VII-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >37y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 C-VII-8 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >49y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 C-VII-10 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >40y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 C-VIII-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Father had a sudden cardiac death at age 40. M - - - >21y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 D-II-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >63y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 D-III-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >34y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 D-III-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >41y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 E-I-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >62y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - - - DNA PCR, SEQ - - ? 19879535 E-II-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >39y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - - - DNA SEQ - - ? FamF-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch 43y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - - - DNA SEQ - - ? FamG-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch >52y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - - - DNA SEQ - - ? FamH-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >40y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: McCormick 2015, Journal: McCormick 2015 - - Germline - - - - - DNA SEQ - - ? FamPatIII-1 PubMed: McCormick 2015, Journal: McCormick 2015 4-generation family, 5 affected (3F, 2M) M - United States white >45y - - Pacemaker 5 Pieter Klap
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.4):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.4):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.4):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - - - DNA SEQ - - MYOP FamB PubMed: Bergman 2007 4 affecteds 4-generation family - - Netherlands - - - - - 4 Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - - - DNA SEQ - - MYOP FamA PubMed: Bergman 2007 4 affecteds 4-generation family - - Netherlands - - - - - 4 Johan den Dunnen
+/. - c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Pica 2008 - - Germline yes - - - - DNA SEQ - - MYOP 18061454-Fam PubMed: Pica 2008 2-generation family, 4 affected (2F, 2M) F;M no China - - - - - 4 Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Walsh 2017 - - Germline - 1/590 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat27 PubMed: Westra 2019 family, affected mother/daughter F - - - - - - - 2 Johan den Dunnen
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