Full data view for gene PURA

Information The variants shown are described using the NM_005859.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.-15665243_*6222550dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.10C>T r.(?) p.(Arg4*) Unknown ACMG likely pathogenic g.139493776C>T g.140114191C>T g.6356C>T - PURA_000047 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. - c.42_43del r.(?) p.(Leu15Glyfs*185) Unknown ACMG likely pathogenic g.139493808_139493809del g.140114223_140114224del - - PURA_000059 - - - - De novo - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - - -
-?/. - c.60C>T r.(?) p.(Ser20=) Unknown - likely benign g.139493826C>T g.140114241C>T - - PURA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.72del r.(?) p.(Gly25Alafs*53) Unknown ACMG pathogenic g.139493838del g.140114253del - - PURA_000057 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
-?/. - c.102_110del r.(?) p.(Gly40_Gly42del) Unknown - likely benign g.139493868_139493876del - PURA(NM_005859.4):c.102_110delTGGTGGCGG (p.(Gly35_Gly37del)) - PURA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102_119del r.(?) p.(Gly37_Gly42del) Unknown - likely benign g.139493868_139493885del g.140114283_140114300del PURA(NM_005859.5):c.102_119delTGGTGGCGGCGGGGGCGG (p.G37_G42del) - PURA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.123_128dup r.(?) p.(Ser43_Gly44dup) Unknown - VUS g.139493889_139493894dup g.140114304_140114309dup PURA(NM_005859.4):c.121_122insGCGGCA (p.(Gly41_Gly42insGlySer)) - PURA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.144_146dup r.(?) p.(Gly49dup) Unknown - likely benign g.139493910_139493912dup g.140114325_140114327dup PURA(NM_005859.5):c.144_146dupCGG (p.G49dup) - PURA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.149_156dup r.(?) p.(Gly53Profs*28) Unknown ACMG likely pathogenic g.139493915_139493922dup g.140114330_140114337dup - - PURA_000056 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. - c.159del r.(?) p.(Leu54CysfsTer24) Unknown - likely pathogenic g.139493925del g.140114340del PURA(NM_005859.4):c.154delG (p.(Leu54CysfsTer24)) - PURA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.159dup r.(?) p.(Leu54Alafs*147) Unknown - pathogenic g.139493925dup g.140114340dup dupG - PURA_000006 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
+/. - c.159dup r.(?) p.(Leu54Alafs*147) Unknown ACMG pathogenic g.139493925dup g.140114340dup - - PURA_000006 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. 1 c.178G>T r.(?) p.(Glu60*) Unknown ACMG pathogenic (dominant) g.139493944G>T - - - PURA_000037 - - - - De novo yes - - - - DNA SEQ-NG Peripheral blood - NDD - - - - - India South Indian - - - - 1 Anju Shukla
+?/. - c.190A>T r.(?) p.(Lys64*) Unknown - pathogenic (dominant) g.139493956A>T g.140114371A>T - - PURA_000032 - - - - Germline - - - - - DNA SEQ-NG-I Blood - ? SL2-137 - - M no - - 20y - - - 1 Filippo Vairo
?/. - c.194G>C r.(?) p.(Arg65Pro) Unknown - VUS g.139493960G>C - - - PURA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.197T>C r.(?) p.(Val66Ala) Unknown ACMG likely pathogenic (dominant) g.139493963T>C g.140114378T>C - - PURA_000035 ACMG PM2, PM6, PP2, PP3 PubMed: Johannesen 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat23 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Denmark - - - - - 1 Johan den Dunnen
+/. - c.207dup r.(?) p.(Asn70Glufs*131) Unknown - pathogenic g.139493973dup - - - PURA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.218T>G r.(?) p.(Phe73Cys) Unknown ACMG likely pathogenic g.139493984T>G g.140114399T>G g.6564G>T - PURA_000051 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. - c.224T>G r.(?) p.(Leu75Arg) Unknown ACMG likely pathogenic (dominant) g.139493990T>G g.140114405T>G - - PURA_000060 ACMG PM1, PM2, PM5, PP2, PP3 PubMed: Marinakis 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 8070 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.230T>A r.(?) p.(Val77Glu) Unknown - pathogenic (dominant) g.139493996T>A g.140114411T>A - - PURA_000064 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat8 PubMed: Chuan 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.235C>T r.(?) p.(Gln79Ter) Unknown - pathogenic g.139494001C>T g.140114416C>T - - PURA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.296G>T r.(?) p.(Arg99Leu) Maternal (confirmed) ACMG likely pathogenic g.139494062G>T g.140114477G>T - - PURA_000063 - - - - Germline yes - - - - DNA SEQ-NG - - ? 31991 - - F no - - - - - - 1 Michael Hildebrand
+/. - c.307_308dup r.(?) p.(Met104ProfsTer122) Unknown - pathogenic g.139494073_139494074dup g.140114488_140114489dup PURA(NM_005859.5):c.307_308dupTC (p.M104Pfs*122) - PURA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.327G>T r.(?) p.(Glu109Asp) Unknown - VUS g.139494093G>T - - - PURA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.339C>G r.(?) p.(Tyr113Ter) Unknown - pathogenic g.139494105C>G g.140114520C>G - - PURA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.349T>G r.(?) p.(Phe117Val) Unknown - likely pathogenic g.139494115T>G g.140114530T>G - - PURA_000033 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.389C>T r.(?) p.(Pro130Leu) Unknown - likely benign g.139494155C>T g.140114570C>T PURA(NM_005859.4):c.389C>T (p.(Pro130Leu)) - PURA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422G>C r.(?) p.(Arg141Pro) Unknown - VUS g.139494188G>C - PURA(NM_005859.4):c.422G>C (p.(Arg141Pro)) - PURA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.430A>G r.(?) p.(Lys144Glu) Unknown - likely pathogenic (dominant) g.139494196A>G g.140114611A>G - - PURA_000065 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2708.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.430A>T r.(?) p.(Lys144*) Unknown ACMG likely pathogenic g.139494196A>T g.140114611A>T g.6776T>A - PURA_000053 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
-?/. - c.435C>G r.(?) p.(Ser145Arg) Unknown - likely benign g.139494201C>G g.140114616C>G - - PURA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.449del r.(?) p.(Arg150Profs*75) Unknown ACMG pathogenic g.139494215del g.140114630del - - PURA_000054 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
?/. - c.458G>C r.(?) p.(Arg153Pro) Unknown ACMG VUS g.139494224G>C g.140114639G>C g.6804C>G - PURA_000046 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. - c.470T>G r.(?) p.(Met157Arg) Unknown - likely pathogenic g.139494236T>G g.140114651T>G PURA(NM_005859.4):c.470T>G (p.(Met157Arg)) - PURA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478A>G r.(?) p.(Lys160Glu) Unknown - VUS g.139494244A>G - - - PURA_000042 - - - - De novo - - - - - DNA SEQ-NG - - ID 136P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.487C>T r.(?) p.(Gln163*) Unknown ACMG pathogenic (dominant) g.139494253C>T g.140114668C>T - - PURA_000036 ACMG PVS1, PM2, PM6, PP5 PubMed: Johannesen 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat22 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.502del r.(?) p.(Leu168Cysfs*57) Unknown ACMG likely pathogenic g.139494268del g.140114683del - - PURA_000004 - PubMed: Trujillano 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - NEDRIHF;MRD31 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - 1 Daniel Trujillano
?/. - c.506G>A r.(?) p.(Arg169His) Unknown - VUS g.139494272G>A g.140114687G>A PURA(NM_005859.4):c.506G>A (p.R169H) - PURA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.506G>C r.(?) p.(Arg169Pro) Unknown ACMG likely pathogenic g.139494272G>C g.140114687G>C g.6852G>C - PURA_000050 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. 1 c.511C>G r.(?) p.(Arg171Gly) Unknown - likely pathogenic (dominant) g.139494277C>G g.140114692C>G - - PURA_000066 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED3627.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+/. - c.531del r.(?) p.(Pro178Leufs*47) Unknown ACMG pathogenic g.139494297del g.140114712del - - PURA_000055 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. - c.550C>T r.(?) p.(Gln184*) Unknown ACMG likely pathogenic g.139494316C>T g.140114731C>T g.6896G>C - PURA_000052 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. 1 c.556C>T r.(?) p.(Gln186*) Parent #1 - pathogenic g.139494322C>T g.140114737C>T - - PURA_000005 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH5932_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.565G>C r.(?) p.(Ala189Pro) Unknown - likely pathogenic g.139494331G>C g.140114746G>C - - PURA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572C>T r.(?) p.(Pro191Leu) Unknown - VUS g.139494338C>T g.140114753C>T PURA(NM_005859.4):c.572C>T (p.(Pro191Leu)) - PURA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.575C>T r.(?) p.(Ala192Val) Unknown ACMG pathogenic (dominant) g.139494341C>T g.140114756C>T g.6921G>C - PURA_000045 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. 1 c.577C>T r.(?) p.(Gln193*) Unknown ACMG pathogenic (dominant) g.139494343C>T g.140114758C>T - - PURA_000043 ACMG PVS1, PS2_MOD, PM2_SUP (confirmed de novo in trio-exome sequencing) - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 200989 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.580G>A r.(?) p.(Gly194Arg) Unknown - likely pathogenic g.139494346G>A g.140114761G>A PURA(NM_005859.4):c.580G>A (p.G194R) - PURA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583C>G r.(?) p.(Leu195Val) Unknown ACMG VUS g.139494349C>G g.140114764C>G g.6929A>C - PURA_000048 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
./. - c.616A>T r.(?) p.(Ile206Phe) Unknown - pathogenic g.139494382A>T g.140114797A>T - - PURA_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.675_676insA r.(?) p.(Val226SerfsTer68) Unknown - likely pathogenic g.139494441_139494442insA g.140114856_140114857insA - - PURA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.692T>G r.(?) p.(Phe231Cys) Unknown ACMG pathogenic (dominant) g.139494458T>G g.140114873T>G g.7038G>T - PURA_000044 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. - c.697_699del r.(?) p.(Phe233del) Unknown ACMG pathogenic g.139494463_139494465del g.140114878_140114880del - - PURA_000021 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. - c.711dup r.(?) p.(Asn238Glnfs*56) Unknown - pathogenic g.139494477dup g.140114892dup - - PURA_000023 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.726_727del r.(?) p.(Phe243Tyrfs*50) Unknown - pathogenic g.139494492_139494493del g.140114904_140114909delinsCGT g.140114907_140114908del - PURA_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.734G>C r.(?) p.(Arg245Pro) Unknown - VUS g.139494500G>C g.140114915G>C - - PURA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.802G>A r.(?) p.(Gly268Arg) Unknown - VUS g.139494568G>A - - - PURA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812T>C r.(?) p.(Phe271Ser) Unknown ACMG VUS g.139494578T>C g.140114993T>C g.7158C>T - PURA_000049 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+/. - c.812_814del r.(?) p.(Phe271del) Unknown ACMG pathogenic (dominant) g.139494578_139494580del g.140114993_140114995del c.810_812del - PURA_000061 ACMG PVS1, PM2, PP3, PP5 PubMed: Marinakis 2021 - rs587782991 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? 20166 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+?/. - c.843del r.(?) p.(Gln282LysfsTer46) Unknown - likely pathogenic g.139494609del g.140115024del - - PURA_000040 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.847del r.(?) p.(Glu283Argfs*45) Unknown - pathogenic g.139494613del g.140115028del - - PURA_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.865del r.(?) p.(Arg289Glyfs*39) Unknown ACMG likely pathogenic g.139494631del g.140115046del - - PURA_000058 - - - - De novo - - - - - DNA SEQ-NG-I - - NEDRIHF;MRD31 - - - - - - - - - - - 1 Dai Weiqian
+?/. - c.881dup r.(?) p.(Leu295Alafs*22) Unknown ACMG likely pathogenic (dominant) g.139494647dup g.140115062dup 881dupA - PURA_000034 - - - - De novo - - - - - DNA SEQ-NG - WES seizures Pat117 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
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