Full data view for gene PKP2

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

15 entries on 1 page. Showing entries 1 - 15.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - likely benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - likely benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - likely benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: den Haan, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: den Haan, Xu onlinejacc.org Abs 55/6/587 - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: McKoy, PubMed: Antoniades, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: McKoy, PubMed: Antoniades - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: van Tintelen, PubMed: Bhuiyan, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: van Tintelen, PubMed: Bhuiyan - - - - - - - - - 4 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - Journal: Wlodarska 2008, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - Journal: Wlodarska 2008 - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: Sen-Chowdhry, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - CM - PubMed: Sen-Chowdhry - - - - - - - - - 1 Paul van der Zwaag
-/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - benign g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: Koopmann, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - Rampazzo 2008 (escardio.org ID24 4371) - - - - - - - - - 1 Paul van der Zwaag
?/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - VUS g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: Christensen, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Christensen Found in 3 patients (p=0.02); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. - - - - - - - - 3 Paul van der Zwaag
+/? 3 c.419C>T r.(?) p.(Ser140Phe) N-terminus Unknown - pathogenic g.33031395G>A g.32878461G>A - - PKP2_000018 - PubMed: Dalal 2009, PubMed: den Haan, PubMed: Xu 2010, ARVD/C database 7446 - - Germline - - - - - DNA SEQ - - ARVD/C 20152563-Pat14 PubMed: Dalal 2009, PubMed: den Haan, PubMed: Xu 2010 Offspring has different combinations of two of these mutations. Controls were done voor DSG2 mutation only. M - United States - - - - - 4 Paul van der Zwaag
-?/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - likely benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.419C>T r.(?) p.(Ser140Phe) - Unknown - benign g.33031395G>A g.32878461G>A PKP2(NM_001005242.3):c.419C>T (p.(Ser140Phe)), PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F) - PKP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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