Full data view for gene DSG2

Information The variants shown are described using the NM_001943.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

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VIP     

Data_av     

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Panel size     

Owner     
?/. 9 c.1174G>A r.(?) p.(Val392Ile) - Unknown - VUS g.29111109G>A g.31531146G>A NM_001943:c.G1174A - DSG2_000033 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 9 c.1174G>A r.(?) p.(Val392Ile) - Unknown - VUS g.29111109G>A g.31531146G>A NM_001943:c.G1174A - DSG2_000033 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.1174G>A r.(?) p.(Val392Ile) - Unknown - benign g.29111109G>A g.31531146G>A DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I) - DSG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1174G>A r.(?) p.(Val392Ile) - Unknown - likely benign g.29111109G>A g.31531146G>A DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I) - DSG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1174G>A r.(?) p.(Val392Ile) - Unknown - benign g.29111109G>A g.31531146G>A DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I) - DSG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1174G>A r.(?) p.(Val392Ile) - Unknown - likely benign g.29111109G>A g.31531146G>A DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I) - DSG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1174G>A r.(?) p.(Val392Ile) Cadherin 4 Unknown - pathogenic g.29111109G>A g.31531146G>A - - DSG2_000033 - PubMed: Syrris - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Syrris - - - - - - - - - 1 Paul van der Zwaag
?/? 9 c.1174G>A r.(?) p.(Val392Ile) Cadherin 4 Unknown - VUS g.29111109G>A g.31531146G>A 1115G>A - DSG2_000033 - PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010, ARVD/C database 7558 - - Germline - - - - - DNA SEQ - - ARVD/C 20152563-Pat18 PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010 - - - - - - - - - 1 Paul van der Zwaag
+/? 9 c.1174G>A r.(?) p.(Val392Ile) Cadherin 4 Unknown - pathogenic g.29111109G>A g.31531146G>A - - DSG2_000033 - PubMed: Bhuiyan, ARVD/C database 7558 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Bhuiyan - - - - - - - - - 1 Paul van der Zwaag
?/? 9 c.1174G>A r.(?) p.(Val392Ile) Cadherin 4 Unknown - VUS g.29111109G>A g.31531146G>A - - DSG2_000033 - PubMed: Syrris et al., PubMed: Bauce et al., Rampazzo (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, PubMed: Bhuiyan et al., ARVD/C database 7558 - - Germline - - - - - DNA SEQ - - ARVC - PubMed: Bhuiyan - - - - - - - - - - Lisbeth Noerum Pedersen
+/. - c.1174G>A r.(?) p.(Val392Ile) - Paternal (confirmed) - pathogenic (dominant) g.29111109G>A g.31531146G>A - - DSG2_000033 variant in 9 other family members (young), 3 affected PubMed: Bauce 2010 - - Germline - - - - - DNA DHPLC, SEQ - screen PKP2, DSG2, DSC2, JUP ARVD/C 20129281-Fam100PatIV-16 PubMed: Bauce 2010 5-generation family, 9 affected (3F, 9M) M - Italy - - - - - 9 Johan den Dunnen
?/. - c.1174G>A r.(?) p.(Val392Ile) - Maternal (confirmed) - VUS g.29111109G>A g.31531146G>A - - DSG2_000033 - PubMed: Ploski 2014 - rs193922639 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 24436435-Fam PubMed: Ploski 2014 2-generation family, unaffected heterozygous carrier mother/son F;M - Poland - - - - - 1 Johan den Dunnen
-/. - c.1174G>A r.(?) p.(Val392Ile) - Unknown - benign g.29111109G>A g.31531146G>A DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I) - DSG2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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