Full data view for gene PIGV

Information The variants shown are described using the NM_017837.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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VIP     

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+/. - c.-113561_*66600dup - r.0? p.0? Unknown g.27001256_27190935dup - - - PIGV_000024 - - - - De novo - - - 0 - DNA arrayCGH, FISH - - MRT Patient PubMed: Coutton et al., 2013 Clinical and molecular characterization of a patient with de novo 1p36.11 microduplication including PIGV and ARID1A in a girl with intellectual disability and hexadactyly F no - - - 0 - - 1 Philippe Campeau
./. - c.-92062_*66261dup - - - Unknown g.27022755_27190596dup g.26696264_26864105dup - - ARID1A_000099 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+?/. - c.53G>A - r.(?) p.(Cys18Tyr) Unknown g.27117359G>A - - - PIGV_000022 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_8 PubMed: Horn 2014 - M no - German - 0 - - 1 Philippe Campeau
?/. - c.94A>G VUS r.(?) p.(Ile32Val) Unknown g.27120619A>G - PIGV(NM_001202554.1):c.94A>G (p.(Ile32Val)) - PIGV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.101C>T VUS r.(?) p.(Pro34Leu) Unknown g.27120626C>T - PIGV(NM_001202554.1):c.101C>T (p.P34L) - PIGV_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115G>A VUS r.(?) p.(Glu39Lys) Unknown g.27120640G>A - PIGV(NM_001202554.1):c.115G>A (p.E39K) - PIGV_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.176T>G - r.(?) p.(Leu59Arg) Unknown g.27120701T>G - - - PIGV_000021 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_6 PubMed: Horn 2014 - M no - German - 0 - - 1 Philippe Campeau
+?/+? - c.265C>T - r.(?) p.(Pro89Ser) Unknown g.27120790C>T - - - PIGV_000025 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.428A>G likely benign r.(?) p.(His143Arg) Unknown g.27120953A>G - PIGV(NM_001202554.1):c.428A>G (p.H143R) - PIGV_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.439C>T pathogenic r.(?) p.(Gln147*) Unknown g.27120964C>T - PIGV(NM_001202554.1):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.452C>T - r.(?) p.(Ala151Val) Unknown g.27120977C>T - - - PIGV_000026 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.467G>A - r.(?) p.(Cys156Tyr) Unknown g.27120992G>A g.26794501G>A - - PIGV_000005 This mutation was not detected in 150 control samples. This missense mutation affects a conserved residue. PubMed: Horn 2011 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Poland Caucasian - 0 - - 1 Philippe Campeau
+/. - c.467G>A - r.(?) p.(Cys156Tyr) Unknown g.27120992G>A g.26794501G>A - - PIGV_000005 This mutation alters a residues in PIGV that is well conserved adn it was not found in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Thompson 2012 Siblings with hyperphosphatasia with neurologic deficit. - no United Kingdom (Great Britain) Caucasian - 0 - - 1 Philippe Campeau
-?/. - c.473G>A likely benign r.(?) p.(Ser158Asn) Unknown g.27120998G>A - PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.473G>A VUS r.(?) p.(Ser158Asn) Unknown g.27120998G>A - PIGV(NM_001202554.1):c.473G>A (p.S158N, p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.494C>A - r.(?) p.(Ala165Glu) Unknown g.27121019C>A g.26794528C>A - - PIGV_000006 First report of this mutation. This mutation alters a residue in PIGV that is well conserved. It was not detected in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Thompson 2012 Siblings with hyperphosphatasia with neurologic deficit. - no United Kingdom (Great Britain) Caucasian - 0 - - 1 Philippe Campeau
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) Unknown g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.494C>A pathogenic r.(?) p.(Ala165Glu) Unknown g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) Unknown g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) Unknown g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.(Ala165Glu), p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511G>A likely benign r.(?) p.(Ala171Thr) Unknown g.27121036G>A - PIGV(NM_001202554.1):c.511G>A (p.A171T) - PIGV_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.577G>A VUS r.(?) p.(Val193Ile) Unknown g.27121102G>A - PIGV(NM_001202554.1):c.577G>A (p.(Val193Ile)) - PIGV_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.614A>G - r.(?) p.(Asn205Ser) Unknown g.27121139A>G - - - PIGV_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.615C>G - r.(?) p.(Asn205Lys) Paternal (confirmed) g.27121140C>G - NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - panel of 470 genes related to epilepsy HPMRS-1;GPIBD-2 - PubMed: Xue 2016 - F no China - - 0 - - 1 Philippe Campeau
-?/. - c.626G>C likely benign r.(?) p.(Ser209Thr) Unknown g.27121151G>C - PIGV(NM_001202554.1):c.626G>C (p.(Ser209Thr)) - PIGV_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.766C>A - r.(?) p.(Gln256Lys) Both (homozygous) g.27121291C>A g.26794800C>A - - PIGV_000003 This mutations results in a substitution in a highly conserved residue. The mutation was not found in 200 controls. PubMed: Krawtiz 2010 - rs267606952 Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Krawitz 2010, PubMed: Marcelis Two sisters with hyperphospatasia mental retardation 1. F yes Morocco African - 0 - - 2 Philippe Campeau
+?/. 2 c.854A>G - r.(?) p.(Tyr285Cys) Maternal (confirmed) g.27121379A>G - NM_001202554:c.854A>G - PIGV_000018 - PubMed: Xue et al. 2016 - - Germline - - - 0 - DNA SEQ-NG - panel of 470 genes related to epilepsy HPMRS-1;GPIBD-2 - PubMed: Xue 2016 - F no China - - 0 - - 1 Philippe Campeau
?/. - c.872A>G VUS r.(?) p.(Asn291Ser) Unknown g.27121397A>G - PIGV(NM_001202554.1):c.872A>G (p.(Asn291Ser)) - PIGV_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.905T>C - r.(?) p.(Leu302Pro) Both (homozygous) g.27121430T>C - - - PIGV_000020 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_1 PubMed: Horn 2014 - F yes - Pakistani - 0 - - 1 Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A g.26795056C>A - - PIGV_000001 This mutation affectis an evolutionarily highly conserved residue. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - rs139073416 Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Krawitz 2010, PubMed: Horn 2010 3 siblings of unrelated parents with hyperphosphatasia and severe mental retardation syndrome. - no Germany Caucasian - 0 - - 3 Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A g.26795056C>A - - PIGV_000001 This mutation affects a highly conserved residue, it was not found in 200 healthy controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Krawitz 2010, PubMed: Rabe 1991 two sibsters, 3 and 6 year-old, with with hyperphosphatasia and severe mental retardation syndrome 1. F ? ? (unknown) - - 0 - - 2 Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A g.26795056C>A - - PIGV_000001 - - - rs139073416 Germline ? - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Poland Caucasian - 0 - - 1 Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A g.26795056C>A - - PIGV_000001 - PubMed: Horn 2011 - rs139073416 Germline ? - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Horn 2011 Index case with Hyperphosphatasia-mental retardation syndrome 1. ? ? Germany Caucasian - 0 - - 1 Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A g.26795056C>A - - PIGV_000001 Alters a conserved residue. It was not found in 4000 exomes. PubMed: Thompson 2012 - rs139073416 Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation. F yes Netherlands Caucasian - 0 - - 1 Philippe Campeau
+?/. 3 c.1022C>A - r.(?) p.(Ala341Glu) Maternal (confirmed) g.27121547C>A - - - PIGV_000001 - PubMed: Reynolds et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES HPMRS-1;GPIBD-2 - PubMed: Reynolds 2017 - M ? - - - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_2 PubMed: Horn 2014 - M no - German - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_3 PubMed: Horn 2014 - F no - German - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_4 PubMed: Horn 2014 - M no - Croatian - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_5 PubMed: Horn 2014 - M no - Croatian - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_6 PubMed: Horn 2014 - M no - German - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Both (homozygous) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_7 PubMed: Horn 2014 - F no - German - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_8 PubMed: Horn 2014 - M no - German - 0 - - 1 Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) Unknown g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_9 PubMed: Horn 2014 - F no - German - 0 - - 1 Philippe Campeau
+/+ - c.1022C>T - r.(?) p.(Ala341Val) Both (homozygous) g.27121547C>T g.26795056C>T - - PIGV_000004 This mutation affects a highly conserved residue. This was absent in 200 controls. PIGV-deficient CHO cells that were transiently transfected with p.Ala341Glu mutant didn't restore CD59 and CD55 surface expression. PubMed: Krawtiz 2010 - rs139073416 Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Krawitz 2010, PubMed: Thompson 2010 13-year-old proposita with hyperphophatasia and severe mental retardation. F no Germany Caucasian - 0 - - 1 Philippe Campeau
+/. - c.1022C>T - r.(?) p.(Ala341Val) Unknown g.27121547C>T g.26795056C>T - - PIGV_000004 This mutation affects a conserved residue. it was not not detected in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation. F yes Netherlands Caucasian - 0 - - 1 Philippe Campeau
+/. - c.1154A>C - r.(?) p.(His385Pro) Unknown g.27121679A>C g.26795188A>C - - PIGV_000002 This mutation affects a highly conserved residue of PIGV. This was absent in 200 200 healthy, unrelated central European individuals. PubMed: Krawtiz 2010 - rs267606951 Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Krawitz 2010, PubMed: Rabe 1991 two sibsters, 3 and 6 year-old, with with hyperphosphatasia and severe mental retardation syndrome 1. F ? ? (unknown) - - 0 - - 2 Philippe Campeau
?/. - c.1189A>G VUS r.(?) p.(Met397Val) Unknown g.27121714A>G - PIGV(NM_001202554.1):c.1189A>G (p.(Met397Val)) - PIGV_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1253C>A - r.(?) p.(Ala418Asp) Paternal (confirmed) g.27124106C>A - - - PIGV_000019 - PubMed: Reynolds et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES HPMRS-1;GPIBD-2 - PubMed: Reynolds 2017 - M ? - - - 0 - - 1 Philippe Campeau
-?/. - c.1277C>T likely benign r.(?) p.(Pro426Leu) Unknown g.27124130C>T - PIGV(NM_001202554.1):c.1277C>T (p.(Pro426Leu)) - PIGV_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1369C>T - r.(?) p.(Leu457Phe) Unknown g.27124222C>T g.26797731C>T - - PIGV_000007 This mutation results in a substitution in the mannose transferase domain of the enzyme. Polyphen-2 modeling for pathogenicity of the p.Leu457Phe variant suggested that it would probably be damaging to protein structure and function. It was not detected in the 4,000 exomes available through the University of Washington genome centre. PubMed: Thompson 2012 - - Germline yes - - 0 - DNA SEQ - - HPMRS-1;GPIBD-2 - PubMed: Thompson 2012 Index case with hyperphosphatasia with mental retardation 1. F no United States Caucasian - 0 - - 1 Philippe Campeau
-?/. - c.1369C>T - r.(?) p.(Leu457Phe) Unknown g.27124222C>T g.26797731C>T - - PIGV_000007 PIGV-defective Chinese hamster ovary (CHO) cells, the altered protein restored the surface levels of GPI-APs as efficiently as the wild-type protein, suggesting no functional impairment of PIGV PubMed: Howard 2014 - - Germline no - - 0 - DNA SEQ-NG - - HPMRS-4;GPIBD-10 - PubMed: Howard 2014 Index case. F no United States Caucasian - 0 - - 1 Philippe Campeau
+?/. - c.1405C>T - r.(?) p.(Arg469*) Unknown g.27124258C>T - - - PIGV_000023 - PubMed: Horn et al. 2014 - - Germline - - - 0 - DNA PCR peripheral blood BigDye Terminator v3.1 Cycle Sequencing Kit ID Patient_9 PubMed: Horn 2014 - F no - German - 0 - - 1 Philippe Campeau
?/. - c.1430C>T VUS r.(?) p.(Thr477Ile) Unknown g.27124283C>T - PIGV(NM_001202554.1):c.1430C>T (p.(Thr477Ile)) - PIGV_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend