Full data view for gene DSP

Information The variants shown are described using the NM_004415.2 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)     

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.88G>A r.(?) p.(Val30Met) - Unknown - likely benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.88G>A r.(?) p.(Val30Met) PKP1 and JUP interacting domain Unknown - pathogenic g.7542236G>A g.7542003G>A - - DSP_000002 - PubMed: Yang, ARVD/C database 7375 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Yang - - - - - - - - - 1 Paul van der Zwaag
+/? 1 c.88G>A r.(?) p.(Val30Met) PKP1 and JUP interacting domain Unknown - pathogenic g.7542236G>A g.7542003G>A - - DSP_000002 - PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7375 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587 - - - - - - - - - 1 Paul van der Zwaag
?/? 1 c.88G>A r.(?) p.(Val30Met) - Unknown - VUS g.7542236G>A g.7542003G>A - - DSP_000002 patient also carries the DSG2-c.137G>A, p.Arg46Gln mutation PubMed: Rasmussen 2013 - - Germline - - - - - DNA SEQ - - - - Unpublished - - - - - - - - - - Torsten Bloch Rasmussen
+/. 1 c.88G>A r.(?) p.(Val30Met) - Maternal (inferred) - pathogenic (dominant) g.7542236G>A g.7542003G>A - - DSP_000002 variant in 7 other family members (young), 1 affected PubMed: Bauce 2010 - - Germline - - - - - DNA DHPLC, SEQ - screen PKP2, DSG2, DSC2, JUP ARVD/C 20129281-Fam137PatIv5 PubMed: Bauce 2010 5-generation family, 5 affected (3F, 2M) F - Italy - - - - - 5 Johan den Dunnen
?/. - c.88G>A r.(?) p.(Val30Met) - Unknown - VUS g.7542236G>A g.7542003G>A - - DSP_000002 - PubMed: Xu 2010 - - Germline - - - - - DNA SEQ - - ARVD/C 20152563-Pat11 PubMed: Xu 2010 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.88G>A r.(?) p.(Val30Met) - Unknown - benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Val30Met) - Unknown - likely benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.88G>A r.(?) p.(Val30Met) - Unknown - likely benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88G>A r.(?) p.(Val30Met) - Unknown - benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.88G>A r.(?) p.(Val30Met) - Unknown - benign g.7542236G>A g.7542003G>A DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M) - DSP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.88G>A r.(?) p.(Val30Met) - Parent #1 - VUS g.7542236G>A g.7542003G>A - - DSP_000002 conflicting interpretations of pathogenicity; 22 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121912998 Germline - 22/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 22 Mohammed Faruq
?/. - c.88G>A r.(?) p.(Val30Met) - Unknown - VUS g.7542236G>A g.7542003G>A - - DSP_000002 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat72 PubMed: Miszalski-Jamka 2017 case not solved - - - - - - - - 1 Johan den Dunnen
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