Full data view for gene PKD2

Information The variants shown are described using the NM_000297.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict-BioInf     

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     
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10531 PubMed: Audrezet 2012 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline yes - - - - DNA SEQ - - PKD 10532 PubMed: Audrezet 2012 family, 2 affected - - France - - - - - 2 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10536 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10610 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10611 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10612 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10613 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10651 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10652 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10662 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(88979256_89011203)_(88998931_?)del g.(88058104_88061993)_(88077779_?)del del ex10-15 g.88983145_g.89011203 (hg19) - PKD2_000184 - PubMed: Audrezet 2012 - - Germline - - - - - DNA SEQ - - PKD 10301 PubMed: Audrezet 2012 patient, family history - - France - - - - - 1 Johan den Dunnen
+/. 9i_15_ c.(2019+1_2020-1)_*2085{0} r.? p.? - Unknown - pathogenic (dominant) g.(88979256_88983057)_(88998931_?)del g.(88058104_88061905)_(88077779_?)del 2020_2904del - PKD2_000184 likely pathogenic in ADPKDdb; 1 family reported in 1 paper copied from ADPKD mutation database Mayo Clinic - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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