Full data view for gene PRICKLE2

Information The variants shown are described using the NM_198859.3 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.-40-42G>A r.(=) p.(=) Unknown - likely benign g.64184685C>T g.64199009C>T PRICKLE2(NM_198859.4):c.-40-42G>A - PRICKLE2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.0 r.0 p.0 Unknown - pathogenic g.(?_62690487)_(64915076_?)del - hg18 chr3:62,665,527–64,890,116 - PRICKLE2_000029 - PubMed: Tao 2011 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - epilepsy Pat6 PubMed: Tao 2011 - M - - - - - - - 1 Johan den Dunnen
./. - c.63G>C - p.(Gln21His) Unknown - VUS g.64184541C>G g.64198865C>G - - PRICKLE2_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_334:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
?/. - c.122C>T r.(?) p.(Pro41Leu) Unknown - VUS g.64184482G>A - PRICKLE2(NM_198859.4):c.122C>T (p.P41L) - PRICKLE2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144+10T>C r.(=) p.(=) Unknown - likely benign g.64184450A>G g.64198774A>G PRICKLE2(NM_198859.4):c.144+10T>C - PRICKLE2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144+135T>G r.(=) p.(=) Unknown - likely benign g.64184325A>C g.64198649A>C PRICKLE2(NM_198859.4):c.144+135T>G - PRICKLE2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145-4T>G r.spl? p.? Unknown - likely benign g.64148809A>C - PRICKLE2(NM_198859.4):c.145-4T>G - PRICKLE2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Pro81=) Unknown - likely benign g.64148707C>T g.64163031C>T PRICKLE2(NM_198859.4):c.243G>A (p.P81=) - PRICKLE2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.259-6A>G r.(=) p.(=) Unknown - benign g.64145759T>C g.64160083T>C PRICKLE2(NM_198859.4):c.259-6A>G - PRICKLE2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267T>C r.(?) p.(Tyr89=) Unknown - likely benign g.64145745A>G - PRICKLE2(NM_198859.3):c.267T>C (p.Y89=) - PRICKLE2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.397-94G>A r.(=) p.(=) Unknown - benign g.64143135C>T g.64157459C>T PRICKLE2(NM_198859.4):c.397-94G>A - PRICKLE2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.443G>A r.(?) p.(Arg148His) Parent #2 - VUS (!) g.64142995C>T - [443G>A;457G>A] - PRICKLE2_000027 variant classification questioned by Sandford 2016; mapped to opposite chromosome by Sandford 2016 PubMed: Tao 2011, PubMed: Sandford 2016 - - Germline - - - - - DNA SEQ - - epilepsy Pat4 PubMed: Tao 2011, PubMed: Sandford 2016 2-generation family, affected sister/brother and sibling (of sister) F - United States - - - - - 3 Johan den Dunnen
?/. - c.443G>A r.(?) p.(Arg148His) Parent #2 - VUS g.64142995C>T - - - PRICKLE2_000027 - PubMed: Sandford 2016 - - Germline - - - - - DNA SEQ - - epilepsy Pat4-sib PubMed: Sandford 2016 sibling patient 4 M - United States - - - - - 1 Johan den Dunnen
./. - c.445G>T r.(?) p.(Ala149Ser) Unknown - VUS g.64142993C>A g.64157317C>A - - PRICKLE2_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202025796 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_19:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.457G>A r.(?) p.(Val153Ile) Unknown - likely benign g.64142981C>T g.64157305C>T PRICKLE2(NM_198859.4):c.457G>A (p.V153I) - PRICKLE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457G>A r.(?) p.(Val153Ile) Parent #1 - VUS g.64142981C>T g.64157305C>T - - PRICKLE2_000013 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139747674 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.457G>A r.(?) p.(Val153Ile) Parent #1 - VUS (!) g.64142981C>T - [443G>A;457G>A] - PRICKLE2_000013 variant classification questioned by Sandford 2016 PubMed: Tao 2011, PubMed: Sandford 2016 - - Germline - - - - - DNA SEQ - - epilepsy Pat4 PubMed: Tao 2011, PubMed: Sandford 2016 2-generation family, affected sister/brother and sibling (of sister) F - United States - - - - - 3 Johan den Dunnen
?/. - c.457G>A r.(?) p.(Val153Ile) Parent #1 - VUS g.64142981C>T - - - PRICKLE2_000013 - PubMed: Sandford 2016 - - Germline - - - - - DNA SEQ - - epilepsy Pat4-sib PubMed: Sandford 2016 sibling patient 4 M - United States - - - - - 1 Johan den Dunnen
?/. - c.481G>A r.(?) p.(Val161Ile) Unknown - VUS g.64142957C>T - PRICKLE2(NM_198859.4):c.481G>A (p.V161I) - PRICKLE2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.527A>G r.(?) p.(Tyr176Cys) Unknown - VUS g.64142911T>C g.64157235T>C - - PRICKLE2_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs188632189 Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_267:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-/. - c.579G>A r.(?) p.(Pro193=) Unknown - benign g.64142859C>T g.64157183C>T PRICKLE2(NM_198859.4):c.579G>A (p.P193=) - PRICKLE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690C>T r.(?) p.(Gly230=) Unknown - likely benign g.64138955G>A - PRICKLE2(NM_198859.3):c.690C>T (p.G230=) - PRICKLE2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788-6T>C r.(=) p.(=) Unknown - likely benign g.64133384A>G g.64147708A>G PRICKLE2(NM_198859.4):c.788-6T>C - PRICKLE2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788-6T>C r.(=) p.(=) Unknown - likely benign g.64133384A>G - PRICKLE2(NM_198859.4):c.788-6T>C - PRICKLE2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788-3del r.spl? p.? Unknown - likely benign g.64133387del - PRICKLE2(NM_198859.4):c.788-3del - PRICKLE2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.816T>C r.(?) p.(Asp272=) Unknown - benign g.64133350A>G g.64147674A>G PRICKLE2(NM_198859.4):c.816T>C (p.D272=) - PRICKLE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.816T>C r.(?) p.(Asp272=) Unknown - benign g.64133350A>G g.64147674A>G PRICKLE2(NM_198859.4):c.816T>C (p.D272=) - PRICKLE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.883C>T r.(?) p.(Arg295Trp) Unknown - VUS g.64133283G>A g.64147607G>A - - PRICKLE2_000030 - PubMed: Ganapathy 2019 - rs776167467 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1931 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.948del r.(?) p.(Asn317Metfs*36) Unknown - VUS g.64133221del - - - PRICKLE2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.950A>G r.(?) p.(Asn317Ser) Unknown - likely benign g.64133216T>C g.64147540T>C PRICKLE2(NM_198859.4):c.950A>G (p.N317S) - PRICKLE2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972C>T r.(?) p.(Ser324=) Unknown - likely benign g.64133194G>A - PRICKLE2(NM_198859.4):c.972C>T (p.S324=) - PRICKLE2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1091G>A r.(?) p.(Arg364Gln) Unknown - likely benign g.64133075C>T g.64147399C>T PRICKLE2(NM_198859.4):c.1091G>A (p.R364Q) - PRICKLE2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098A>C r.(?) p.(Ser366=) Unknown - likely benign g.64133068T>G - PRICKLE2(NM_198859.3):c.1098A>C (p.S366=) - PRICKLE2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1314G>C r.(?) p.(Gln438His) Unknown - VUS g.64132852C>G g.64147176C>G - - PRICKLE2_000002 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202170644 Germline - 1/194 cases RE - - - DNA SEQ-NG - - epilepsy, Rolandic S_683:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.1314G>C r.(?) p.(Gln438His) Unknown - likely benign g.64132852C>G g.64147176C>G PRICKLE2(NM_198859.4):c.1314G>C (p.Q438H) - PRICKLE2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1526_1531del r.(?) p.(Glu509_Glu510del) Unknown - VUS g.64132648_64132653del - PRICKLE2(NM_198859.4):c.1526_1531delAGGAAG (p.E509_E510del) - PRICKLE2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1527G>A r.(?) p.(Glu509=) Unknown - likely benign g.64132639C>T - PRICKLE2(NM_198859.3):c.1527G>A (p.E509=) - PRICKLE2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1546C>T r.(?) p.(Gln516*) Unknown - VUS g.64132620G>A - PRICKLE2(NM_198859.4):c.1546C>T (p.Q516*) - PRICKLE2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1602G>A r.(?) p.(Thr534=) Unknown - likely benign g.64132564C>T g.64146888C>T PRICKLE2(NM_198859.4):c.1602G>A (p.T534=) - PRICKLE2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1661-19C>T r.(=) p.(=) Unknown - likely benign g.64085620G>A g.64099944G>A PRICKLE2(NM_198859.4):c.1661-19C>T - PRICKLE2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1813G>T r.(?) p.(Val605Phe) Unknown - VUS (!) g.64085449C>A - - - PRICKLE2_000028 variant classification questioned by Sandford 2016 PubMed: Tao 2011, PubMed: Sandford 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - epilepsy Pat5 PubMed: Tao 2011 - M - United States - - - - - 1 Johan den Dunnen
./. - c.1913G>T - p.(Arg638Met) Unknown - VUS g.64085349C>A g.64099673C>A - - PRICKLE2_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - DNA SEQ-NG - - Healthy/Control S_511:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - 1 Dheeraj Bobbili
-?/. - c.2003G>A r.(?) p.(Arg668His) Unknown - likely benign g.64085259C>T g.64099583C>T PRICKLE2(NM_198859.4):c.2003G>A (p.R668H) - PRICKLE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2103G>T r.(?) p.(Leu701=) Unknown - likely benign g.64085159C>A - PRICKLE2(NM_198859.4):c.2103G>T (p.L701=) - PRICKLE2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.