All transcript variants in gene PIGV

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

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

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     
+/. - c.-113561_*66600dup - r.0? p.0? g.27001256_27190935dup - - - PIGV_000024 - - - - De novo - - - 0 - Philippe Campeau
./. - c.-92062_*66261dup - - - g.27022755_27190596dup g.26696264_26864105dup - - ARID1A_000099 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.53G>A - r.(?) p.(Cys18Tyr) g.27117359G>A - - - PIGV_000022 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
-?/. - c.91G>A likely benign r.(?) p.(Ala31Thr) g.27120616G>A - PIGV(NM_001202554.1):c.91G>A (p.(Ala31Thr)) - PIGV_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.94A>G VUS r.(?) p.(Ile32Val) g.27120619A>G - PIGV(NM_001202554.1):c.94A>G (p.(Ile32Val)) - PIGV_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.101C>T VUS r.(?) p.(Pro34Leu) g.27120626C>T - PIGV(NM_001202554.1):c.101C>T (p.(Pro34Leu)) - PIGV_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.101C>T VUS r.(?) p.(Pro34Leu) g.27120626C>T - PIGV(NM_001202554.1):c.101C>T (p.(Pro34Leu)) - PIGV_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.176T>G - r.(?) p.(Leu59Arg) g.27120701T>G - - - PIGV_000021 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/+? - c.265C>T - r.(?) p.(Pro89Ser) g.27120790C>T - - - PIGV_000025 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.349A>G likely benign r.(?) p.(Ile117Val) g.27120874A>G - PIGV(NM_001202554.1):c.349A>G (p.(Ile117Val)) - PIGV_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.428A>G likely benign r.(?) p.(His143Arg) g.27120953A>G - PIGV(NM_001202554.1):c.428A>G (p.H143R) - PIGV_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.439C>T pathogenic r.(?) p.(Gln147*) g.27120964C>T - PIGV(NM_001202554.1):c.439C>T (p.Q147*) - PIGV_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.452C>T - r.(?) p.(Ala151Val) g.27120977C>T - - - PIGV_000026 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.467G>A - r.(?) p.(Cys156Tyr) 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 - Philippe Campeau
+/. - c.467G>A - r.(?) p.(Cys156Tyr) 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 - Philippe Campeau
-?/. - c.473G>A likely benign r.(?) p.(Ser158Asn) g.27120998G>A - PIGV(NM_001202554.1):c.473G>A (p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.473G>A VUS r.(?) p.(Ser158Asn) g.27120998G>A - PIGV(NM_001202554.1):c.473G>A (p.(Ser158Asn)) - PIGV_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.494C>A - r.(?) p.(Ala165Glu) 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 - Philippe Campeau
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.494C>A pathogenic r.(?) p.(Ala165Glu) g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.494C>A likely pathogenic r.(?) p.(Ala165Glu) g.27121019C>A - PIGV(NM_001202554.1):c.494C>A (p.A165E) - PIGV_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.511G>A likely benign r.(?) p.(Ala171Thr) g.27121036G>A - PIGV(NM_001202554.1):c.511G>A (p.(Ala171Thr)) - PIGV_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.511G>A likely benign r.(?) p.(Ala171Thr) g.27121036G>A - PIGV(NM_001202554.1):c.511G>A (p.(Ala171Thr)) - PIGV_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.577G>A VUS r.(?) p.(Val193Ile) g.27121102G>A - PIGV(NM_001202554.1):c.577G>A (p.(Val193Ile)) - PIGV_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/+? - c.614A>G - r.(?) p.(Asn205Ser) g.27121139A>G - - - PIGV_000027 - PubMed: Knaus et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. 2 c.615C>G - r.(?) p.(Asn205Lys) g.27121140C>G - NM_001202554:c.615C>G - PIGV_000017 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau
-?/. - c.626G>C likely benign r.(?) p.(Ser209Thr) g.27121151G>C - PIGV(NM_001202554.1):c.626G>C (p.(Ser209Thr)) - PIGV_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.766C>A - r.(?) p.(Gln256Lys) 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 - Philippe Campeau
+?/. 2 c.854A>G - r.(?) p.(Tyr285Cys) g.27121379A>G - NM_001202554:c.854A>G - PIGV_000018 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau
?/. - c.872A>G VUS r.(?) p.(Asn291Ser) g.27121397A>G - PIGV(NM_001202554.1):c.872A>G (p.(Asn291Ser)) - PIGV_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.905T>C - r.(?) p.(Leu302Pro) g.27121430T>C - - - PIGV_000020 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) 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 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) 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 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 - - - rs139073416 Germline ? - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A g.26795056C>A - - PIGV_000001 - PubMed: Horn 2011 - rs139073416 Germline ? - - 0 - Philippe Campeau
+/+ - c.1022C>A - r.(?) p.(Ala341Glu) 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 - Philippe Campeau
+?/. 3 c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Reynolds et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1022C>A - r.(?) p.(Ala341Glu) g.27121547C>A - - - PIGV_000001 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
+/+ - c.1022C>T - r.(?) p.(Ala341Val) 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 - Philippe Campeau
+/. - c.1022C>T - r.(?) p.(Ala341Val) 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 - Philippe Campeau
+/. - c.1154A>C - r.(?) p.(His385Pro) 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 - Philippe Campeau
?/. - c.1189A>G VUS r.(?) p.(Met397Val) g.27121714A>G - PIGV(NM_001202554.1):c.1189A>G (p.(Met397Val)) - PIGV_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 4 c.1253C>A - r.(?) p.(Ala418Asp) g.27124106C>A - - - PIGV_000019 - PubMed: Reynolds et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. - c.1369C>T - r.(?) p.(Leu457Phe) 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 - Philippe Campeau
-?/. - c.1369C>T - r.(?) p.(Leu457Phe) 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 - Philippe Campeau
-?/. - c.1369C>T likely benign r.(?) p.(Leu457Phe) g.27124222C>T - PIGV(NM_001202554.1):c.1369C>T (p.(Leu457Phe)) - PIGV_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1405C>T - r.(?) p.(Arg469*) g.27124258C>T - - - PIGV_000023 - PubMed: Horn et al. 2014 - - Germline - - - 0 - Philippe Campeau
?/. - c.1430C>T VUS r.(?) p.(Thr477Ile) g.27124283C>T - PIGV(NM_001202554.1):c.1430C>T (p.(Thr477Ile)) - PIGV_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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