Full data view for gene DSG4

Information The variants shown are described using the NM_177986.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.30C>T r.(?) p.(Cys10=) Unknown - benign g.28956904C>T g.31376941C>T DSG4(NM_001134453.2):c.30C>T (p.C10=) - DSG4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.216A>G r.(?) p.(Lys72=) Unknown - likely benign g.28966782A>G - DSG4(NM_001134453.2):c.216A>G (p.K72=) - DSG4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258G>A r.(?) p.(Arg86=) Unknown - benign g.28968371G>A g.31388408G>A DSG4(NM_001134453.2):c.258G>A (p.R86=) - DSG4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.495C>T r.(?) p.(Ser165=) Unknown - benign g.28968959C>T g.31388996C>T DSG4(NM_001134453.2):c.495C>T (p.S165=) - DSG4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.955G>A r.(?) p.(Asp319Asn) Unknown - VUS g.28972253G>A g.31392290G>A DSG4(NM_001134453.2):c.955G>A (p.D319N) - DSG4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997G>A r.(?) p.(Val333Ile) Unknown - VUS g.28972295G>A g.31392332G>A DSG4(NM_001134453.2):c.997G>A (p.V333I) - DSG4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198G>A r.(?) p.(Gly400Arg) Parent #1 - VUS g.28979427G>A g.31399464G>A - - DSG4_000014 no interpretation available; 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35378785 Germline - 10/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
?/. - c.1487A>G r.(?) p.(Asn496Ser) Parent #1 - VUS g.28983448A>G g.31403485A>G - - DSG4_000015 9 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117510013 Germline - 9/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
?/. - c.1487A>G r.(?) p.(Asn496Ser) Both (homozygous) - VUS g.28983448A>G g.31403485A>G - - DSG4_000015 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117510013 Germline - 1/2792 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1568C>T r.(?) p.(Pro523Leu) Parent #1 - VUS g.28983529C>T g.31403566C>T - - DSG4_000016 conflicting interpretations of pathogenicity; 92 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34620697 Germline - 92/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 92 Mohammed Faruq
-/. - c.1930A>C r.(?) p.(Ile644Leu) Unknown - benign g.28986333A>C g.31406370A>C DSG4(NM_001134453.2):c.1930A>C (p.I644L) - DSG4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2138-14T>C r.(=) p.(=) Unknown - likely benign g.28991180T>C g.31411217T>C DSG4(NM_001134453.2):c.2181T>C (p.H727=) - DSG4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2387G>T r.(?) p.(Gly796Val) Unknown - VUS g.28992822G>T g.31412859G>T DSG4(NM_001134453.2):c.2444G>T (p.G815V) - DSG4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2389C>T r.(?) p.(Arg797*) Both (homozygous) ACMG likely pathogenic g.28992824C>T g.31412861C>T - - DSG4_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - HYPT-6 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
-/. - c.2748A>G r.(?) p.(Pro916=) Unknown - benign g.28993183A>G g.31413220A>G DSG4(NM_001134453.2):c.2805A>G (p.P935=) - DSG4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2918dup r.(?) p.(Val974Cysfs*3) Both (homozygous) - VUS g.28993353dup g.31413390dup NM_001134343:c.2975dupG - DSG4_000013 variant not associated with phenotype PubMed: Mero 2017 - - Germline no - - 0 - DNA SEQ, SEQ-NG - WES ? family PubMed: Mero 2017 2-generation family, 4 affected fetuses, unaffected heterozygous carrier parents (first cousins) - yes Norway - - 0 - - 4 Johan den Dunnen
-/. - c.3066C>A r.(?) p.(Pro1022=) Unknown - benign g.28993501C>A g.31413538C>A DSG4(NM_001134453.2):c.3123C>A (p.P1041=) - DSG4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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