Full data view for gene PIGV

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

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ - 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
Legend