All variants in the PRICKLE1 gene

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

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-49+19C>T r.(=) p.(=) - likely benign g.42983248G>A g.42589446G>A PRICKLE1(NM_153026.3):c.-49+19C>T - PRICKLE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.100G>A r.(?) p.(Ala34Thr) - VUS g.42866219C>T g.42472417C>T - - PRICKLE1_000018 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/194 cases RE - - - Dheeraj Bobbili
-?/. - c.108C>T r.(?) p.(Val36=) - likely benign g.42866211G>A g.42472409G>A PRICKLE1(NM_153026.2):c.108C>T (p.V36=) - PRICKLE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.114G>A r.(?) p.(Pro38=) - likely benign g.42866205C>T g.42472403C>T PRICKLE1(NM_153026.2):c.114G>A (p.P38=), PRICKLE1(NM_153026.3):c.114G>A (p.P38=) - PRICKLE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.114G>A r.(?) p.(Pro38=) - likely benign g.42866205C>T - PRICKLE1(NM_153026.2):c.114G>A (p.P38=), PRICKLE1(NM_153026.3):c.114G>A (p.P38=) - PRICKLE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 3 c.206T>C r.(?) p.(Ile69Thr) - VUS g.42864088A>G g.42470286A>G - - PRICKLE1_000001 - - - - Germline - - - - - Zoha Kibar
?/? 3 c.241A>C r.(?) p.(Asn81His) - VUS g.42864053T>G g.42470251T>G - - PRICKLE1_000002 - - - - Germline - - - - - Zoha Kibar
+/. 4 c.311G>A r.(?) p.(Arg104Gln) - pathogenic (recessive) g.42863325C>T g.42469523C>T - - PRICKLE1_000001 mapped by linkage; not in 3284 control chromosomes PubMed: Bassuk 2008, OMIM:var0001 - - Germline - - - - - LOVD
+/. 4 c.311G>A r.(?) p.(Arg104Gln) - pathogenic (recessive) g.42863325C>T g.42469523C>T - - PRICKLE1_000001 mapped by linkage; not in 3284 control chromosomes PubMed: Bassuk 2008, OMIM:var0001 - - Germline yes - - - - LOVD
+/. 4 c.311G>A r.(?) p.(Arg104Gln) - pathogenic (recessive) g.42863325C>T g.42469523C>T - - PRICKLE1_000001 mapped by linkage; not in 3284 control chromosomes PubMed: Bassuk 2008, OMIM:var0001 - - Germline yes - - - - LOVD
+?/. - c.311G>A r.(?) p.(Arg104Gln) - likely pathogenic g.42863325C>T g.42469523C>T - - PRICKLE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.311G>A r.(?) p.(Arg104Gln) - likely pathogenic g.42863325C>T g.42469523C>T - - PRICKLE1_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113994140 Germline - 1/2795 individuals - - - Mohammed Faruq
?/? 4 c.361G>A r.(?) p.(Val121Ile) - VUS g.42863275C>T g.42469473C>T - - PRICKLE1_000009 - - - - Germline - - - - - Zoha Kibar
./. - c.370G>A r.(?) p.(Ala124Thr) - VUS g.42863266C>T g.42469464C>T - - PRICKLE1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs79087668 Germline - 3/567 controls - - - Dheeraj Bobbili
./. - c.370G>A r.(?) p.(Ala124Thr) - VUS g.42863266C>T g.42469464C>T - - PRICKLE1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs79087668 Germline - 3/567 controls - - - Dheeraj Bobbili
./. - c.370G>A r.(?) p.(Ala124Thr) - VUS g.42863266C>T g.42469464C>T - - PRICKLE1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs79087668 Germline - 1/194 cases RE - - - Dheeraj Bobbili
./. - c.370G>A r.(?) p.(Ala124Thr) - VUS g.42863266C>T g.42469464C>T - - PRICKLE1_000008 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs79087668 Germline - 3/567 controls - - - Dheeraj Bobbili
-/. - c.370G>A r.(?) p.(Ala124Thr) - benign g.42863266C>T g.42469464C>T PRICKLE1(NM_153026.3):c.370G>A (p.A124T) - PRICKLE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 4 c.370G>A r.(?) p.(Ala124Thr) - VUS g.42863266C>T g.42469464C>T - - PRICKLE1_000008 - - - - Germline - - - - - Zoha Kibar
-/. - c.374T>C r.(?) p.(Val125Ala) - benign g.42863262A>G g.42469460A>G PRICKLE1(NM_153026.3):c.374T>C (p.V125A) - PRICKLE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.385-18A>C r.(=) p.(=) - likely benign g.42862649T>G - PRICKLE1(NM_153026.3):c.385-18A>C - PRICKLE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 5 c.431G>A r.(?) p.(Arg144His) - pathogenic (dominant) g.42862585C>T g.42468783C>T - - PRICKLE1_000011 not in 2352 control chromosomes PubMed: Tao 2011, OMIM:var0002 - - Germline/De novo (untested) - - - - - LOVD
?/. - c.431G>A r.(?) p.(Arg144His) - VUS g.42862585C>T - PRICKLE1(NM_153026.2):c.431G>A (p.(Arg144His)) - PRICKLE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.434C>T r.(?) p.(Ala145Val) - likely pathogenic g.42862582G>A g.42468780G>A PRICKLE1(NM_153026.3):c.434C>T (p.A145V) - PRICKLE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.497T>C r.(?) p.(Val166Ala) - likely pathogenic g.42862519A>G g.42468717A>G PRICKLE1(NM_153026.3):c.497T>C (p.V166A) - PRICKLE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.590T>C r.(?) p.(Ile197Thr) - VUS g.42860181A>G - PRICKLE1(NM_001144881.1):c.590T>C (p.(Ile197Thr)) - PRICKLE1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.744G>A r.(?) p.(Ala248=) - benign g.42860027C>T g.42466225C>T PRICKLE1(NM_153026.3):c.744G>A (p.A248=) - PRICKLE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 7 c.824C>T r.(?) p.(Thr275Met) - VUS g.42859012G>A g.42465210G>A - - PRICKLE1_000003 - - - - Germline - - - - - Zoha Kibar
-?/. - c.861T>C r.(?) p.(Ser287=) - likely benign g.42858975A>G - PRICKLE1(NM_153026.2):c.861T>C (p.S287=), PRICKLE1(NM_153026.3):c.861T>C (p.S287=) - PRICKLE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.861T>C r.(?) p.(Ser287=) - likely benign g.42858975A>G - PRICKLE1(NM_153026.2):c.861T>C (p.S287=), PRICKLE1(NM_153026.3):c.861T>C (p.S287=) - PRICKLE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.954C>G r.(?) p.(Ser318=) - likely benign g.42858882G>C g.42465080G>C PRICKLE1(NM_153026.2):c.954C>G (p.S318=), PRICKLE1(NM_153026.3):c.954C>G (p.S318=) - PRICKLE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.954C>G r.(?) p.(Ser318=) - likely benign g.42858882G>C g.42465080G>C PRICKLE1(NM_153026.2):c.954C>G (p.S318=), PRICKLE1(NM_153026.3):c.954C>G (p.S318=) - PRICKLE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.954C>T r.(?) p.(Ser318=) - likely benign g.42858882G>A g.42465080G>A PRICKLE1(NM_153026.3):c.954C>T (p.S318=) - PRICKLE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. - c.1046C>G r.(?) p.(Ser349Cys) - VUS g.42858790G>C g.42464988G>C - - PRICKLE1_000021 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
./. - c.1051_1055del r.(?) p.(Leu351Ilefs*16) - VUS g.42858781_42858785del g.42464979_42464983del - - PRICKLE1_000020 frameshift_deletion PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
-?/. - c.1127A>G r.(?) p.(Asp376Gly) - likely benign g.42858709T>C - PRICKLE1(NM_153026.2):c.1127A>G (p.(Asp376Gly)) - PRICKLE1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.1177T>C r.(?) p.(Trp393Arg) - VUS g.42858659A>G g.42464857A>G - - PRICKLE1_000019 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/. - c.1309A>G r.(?) p.(Ile437Val) ACMG VUS g.42858527T>C g.42464725T>C - - PRICKLE1_000034 ACMG grading: BP4,PM2 no second variant detected in PRICKLE1 - - - Germline - - - - - Andreas Laner
-?/. - c.1358C>T r.(?) p.(Thr453Ile) - likely benign g.42858478G>A - PRICKLE1(NM_153026.2):c.1358C>T (p.T453I) - PRICKLE1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 7 c.1414T>C r.(?) p.(Tyr472His) - pathogenic (dominant) g.42858422A>G g.42464620A>G - - PRICKLE1_000012 not in 2352 control chromosomes PubMed: Tao 2011, OMIM:var0003 - - Germline/De novo (untested) - - - - - LOVD
?/. - c.1478G>A r.(?) p.(Ser493Asn) - VUS g.42858358C>T - PRICKLE1(NM_153026.3):c.1478G>A (p.S493N) - PRICKLE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1488G>C r.(?) p.(Arg496Ser) - likely benign g.42858348C>G - PRICKLE1(NM_153026.2):c.1488G>C (p.(Arg496Ser)) - PRICKLE1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1547G>C r.(?) p.(Trp516Ser) - VUS g.42858289C>G - PRICKLE1(NM_153026.2):c.1547G>C (p.W516S) - PRICKLE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1601G>A r.(?) p.(Arg534Gln) - VUS g.42858235C>T g.42464433C>T PRICKLE1(NM_153026.2):c.1601G>A (p.R534Q) - PRICKLE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 8 c.1648G>A r.(?) p.(Val550Met) - VUS g.42854459C>T g.42460657C>T - - PRICKLE1_000004 - - - - Germline - - - - - Zoha Kibar
-?/. - c.1759A>G r.(?) p.(Met587Val) - likely benign g.42854348T>C - PRICKLE1(NM_153026.2):c.1759A>G (p.(Met587Val)) - PRICKLE1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1899T>C r.(?) p.(Phe633=) - benign g.42854208A>G g.42460406A>G PRICKLE1(NM_153026.3):c.1899T>C (p.F633=) - PRICKLE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1899T>C r.(?) p.(Phe633=) - benign g.42854208A>G g.42460406A>G PRICKLE1(NM_153026.3):c.1899T>C (p.F633=) - PRICKLE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1902T>C r.(?) p.(Ser634=) - benign g.42854205A>G g.42460403A>G PRICKLE1(NM_153026.3):c.1902T>C (p.S634=) - PRICKLE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1902T>C r.(?) p.(Ser634=) - benign g.42854205A>G g.42460403A>G PRICKLE1(NM_153026.3):c.1902T>C (p.S634=) - PRICKLE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1919A>T r.(?) p.(Asn640Ile) - VUS g.42854188T>A g.42460386T>A PRICKLE1(NM_153026.3):c.1919A>T (p.N640I) - PRICKLE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1967C>T r.(?) p.(Thr656Ile) - VUS g.42854140G>A g.42460338G>A PRICKLE1(NM_153026.2):c.1967C>T (p.T656I) - PRICKLE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 8 c.2044C>T r.(?) p.(Arg682Cys) - VUS g.42854063G>A g.42460261G>A - - PRICKLE1_000005 - - - - Germline - - - - - Zoha Kibar
./. - c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A g.42460089G>A - - PRICKLE1_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs138452760 Germline - 1/567 controls - - - Dheeraj Bobbili
./. - c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A g.42460089G>A - - PRICKLE1_000006 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - rs138452760 Germline - 1/194 cases RE - - - Dheeraj Bobbili
-?/. - c.2216C>T r.(?) p.(Ser739Phe) - likely benign g.42853891G>A g.42460089G>A PRICKLE1(NM_153026.2):c.2216C>T (p.S739F, p.(Ser739Phe)), PRICKLE1(NM_153026.3):c.2216C>T (p.S739F) - PRICKLE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 8 c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A g.42460089G>A - - PRICKLE1_000006 - - - - Germline - - - - - Zoha Kibar
?/. - c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A - PRICKLE1(NM_153026.2):c.2216C>T (p.S739F, p.(Ser739Phe)), PRICKLE1(NM_153026.3):c.2216C>T (p.S739F) - PRICKLE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A - PRICKLE1(NM_153026.2):c.2216C>T (p.S739F, p.(Ser739Phe)), PRICKLE1(NM_153026.3):c.2216C>T (p.S739F) - PRICKLE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2216C>T r.(?) p.(Ser739Phe) - VUS g.42853891G>A - PRICKLE1(NM_153026.2):c.2216C>T (p.S739F, p.(Ser739Phe)), PRICKLE1(NM_153026.3):c.2216C>T (p.S739F) - PRICKLE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2236C>T r.(?) p.(Pro746Ser) - benign g.42853871G>A g.42460069G>A PRICKLE1(NM_001144881.1):c.2236C>T (p.(Pro746Ser)), PRICKLE1(NM_153026.3):c.2236C>T (p.P746S) - PRICKLE1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2236C>T r.(?) p.(Pro746Ser) - likely benign g.42853871G>A - PRICKLE1(NM_001144881.1):c.2236C>T (p.(Pro746Ser)), PRICKLE1(NM_153026.3):c.2236C>T (p.P746S) - PRICKLE1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2262C>G r.(?) p.(Leu754=) - likely benign g.42853845G>C - PRICKLE1(NM_153026.2):c.2262C>G (p.L754=) - PRICKLE1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 8 c.2311G>A r.(?) p.(Asp771Asn) - VUS g.42853796C>T g.42459994C>T - - PRICKLE1_000007 - - - - Germline - - - - - Zoha Kibar
?/. - c.2311G>A r.(?) p.(Asp771Asn) - VUS g.42853796C>T - PRICKLE1(NM_153026.2):c.2311G>A (p.(Asp771Asn)) - PRICKLE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.2315C>T r.(?) p.(Ser772Leu) - VUS g.42853792G>A g.42459990G>A - - PRICKLE1_000017 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
?/? 8 c.2396C>G r.(?) p.(Ser799Cys) - VUS g.42853711G>C g.42459909G>C - - PRICKLE1_000010 - - - - Germline - - - - - Zoha Kibar
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