Unique variants in gene PRICKLE2

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-40-42G>A likely benign r.(=) p.(=) g.64184685C>T - PRICKLE2(NM_198859.3):c.-40-42G>A - PRICKLE2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.63G>C - r.(?) p.(Gln21His) g.64184541C>G g.64198865C>G - - PRICKLE2_000005 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/. 1 - c.122C>T VUS r.(?) p.(Pro41Leu) g.64184482G>A - PRICKLE2(NM_198859.3):c.122C>T (p.P41L) - PRICKLE2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.144+10T>C likely benign r.(=) p.(=) g.64184450A>G - PRICKLE2(NM_198859.3):c.144+10T>C - PRICKLE2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.144+135T>G likely benign r.(=) p.(=) g.64184325A>C - PRICKLE2(NM_198859.3):c.144+135T>G - PRICKLE2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.243G>A likely benign r.(?) p.(=) g.64148707C>T - PRICKLE2(NM_198859.3):c.243G>A (p.P81=) - PRICKLE2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.259-6A>G benign r.(=) p.(=) g.64145759T>C - PRICKLE2(NM_198859.3):c.259-6A>G - PRICKLE2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.397-94G>A benign r.(=) p.(=) g.64143135C>T - PRICKLE2(NM_198859.3):c.397-94G>A - PRICKLE2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.445G>T - r.(?) p.(Ala149Ser) g.64142993C>A g.64157317C>A - - PRICKLE2_000004 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202025796 Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. 1 - c.457G>A likely benign r.(?) p.(Val153Ile) g.64142981C>T - PRICKLE2(NM_198859.3):c.457G>A (p.V153I) - PRICKLE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.527A>G - r.(?) p.(Tyr176Cys) g.64142911T>C g.64157235T>C - - PRICKLE2_000003 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs188632189 Germline - 1/567 controls - - - Dheeraj Bobbili
-/. 1 - c.579G>A benign r.(?) p.(=) g.64142859C>T - PRICKLE2(NM_198859.3):c.579G>A (p.P193=) - PRICKLE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.816T>C benign r.(?) p.(=) g.64133350A>G - PRICKLE2(NM_198859.3):c.816T>C (p.D272=) - PRICKLE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
-?/. 1 - c.950A>G likely benign r.(?) p.(Asn317Ser) g.64133216T>C - PRICKLE2(NM_198859.3):c.950A>G (p.N317S) - PRICKLE2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1091G>A likely benign r.(?) p.(Arg364Gln) g.64133075C>T - PRICKLE2(NM_198859.3):c.1091G>A (p.R364Q) - PRICKLE2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ./. 2 - c.1314G>C likely benign r.(?) p.(Gln438His) g.64132852C>G g.64147176C>G PRICKLE2(NM_198859.3):c.1314G>C (p.Q438H) - PRICKLE2_000002 VKGL data sharing initiative Nederland PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs202170644 CLASSIFICATION record, Germline - 1/194 cases RE - - - VKGL-NL, Dheeraj Bobbili
-?/. 1 - c.1602G>A likely benign r.(?) p.(=) g.64132564C>T - PRICKLE2(NM_198859.3):c.1602G>A (p.T534=) - PRICKLE2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1661-19C>T likely benign r.(=) p.(=) g.64085620G>A - PRICKLE2(NM_198859.3):c.1661-19C>T - PRICKLE2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.1913G>T - r.(?) p.(Arg638Met) g.64085349C>A g.64099673C>A - - PRICKLE2_000001 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. 1 - c.2003G>A likely benign r.(?) p.(Arg668His) g.64085259C>T - PRICKLE2(NM_198859.3):c.2003G>A (p.R668H) - PRICKLE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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