Full data view for gene PKP2

Information The variants shown are described using the 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     

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Disease     

ID_report     

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VIP     

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Panel size     

Owner     
-?/. 1 c.76G>A r.(?) p.(Asp26Asn) - Parent #1 - likely benign g.33049590C>T g.32896656C>T 76C>T - PKP2_000001 - PubMed: van Spaendonck-Zwarts 2014 - - Unknown ? - - - - DNA SEQ-NG-I - - CMD - PubMed: van Spaendonck-Zwarts 2014 4-generation family, 2 affecteds F no Netherlands - - - - - 2 Johan den Dunnen
?/. 1 c.76G>A r.(?) p.(Asp26Asn) - Unknown - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Brun 2014, Journal: Brun 2014 - - Germline - - - - - DNA SEQ - - ARVC - PubMed: Brun 2014, Journal: Brun 2014 3-generation family, 4 affecteds (4M), 3 suspected (2F, M) M - - - - - - - 2 Johan den Dunnen
-/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - benign g.33049590C>T g.32896656C>T PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - benign g.33049590C>T g.32896656C>T PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - benign g.33049590C>T g.32896656C>T PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - benign g.33049590C>T g.32896656C>T PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus Unknown - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: van Tintelen, ARVD/C database 7436 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: van Tintelen Found in 5/210 control alleles by A. Rampazzo (personal communication) - - - - - - - - 1 Paul van der Zwaag
-/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus Unknown - benign g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Koopmann, ARVD/C database 7436 - - Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
+/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus Unknown - pathogenic g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Krahn, ARVD/C database 7436 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Krahn Cardiac arrest survivor - - - - - - - - 1 Paul van der Zwaag
?/? 1 c.76G>A r.(?) p.(Asp26Asn) N-terminus Unknown - VUS g.33049590C>T g.32896656C>T - - PKP2_000001 - PubMed: Christensen, ARVD/C database 7436 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Christensen D26N: Found in 3 patients (p=0.05); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role. - - - - - - - - 3 Paul van der Zwaag
-/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - benign g.33049590C>T g.32896656C>T PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76G>A r.(?) p.(Asp26Asn) - Parent #1 - likely benign g.33049590C>T g.32896656C>T - - PKP2_000001 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143004808 Germline - 21/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
-?/. - c.76G>A r.(?) p.(Asp26Asn) - Unknown - likely benign g.33049590C>T - PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N) - PKP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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