All transcript variants in gene PIGO

Information The variants shown are described using the NM_032634.3 transcript reference sequence.

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

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.-4465G>A VUS r.(?) p.(=) g.35100615C>T - STOML2(NM_013442.1):c.913G>A (p.(Val305Ile)) - FAM214B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.158G>A likely benign r.(?) p.(Gly53Glu) g.35095405C>T - PIGO(NM_001201484.1):c.158G>A (p.(Gly53Glu)) - PIGO_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.191C>T likely benign r.(?) p.(Ala64Val) g.35095372G>A - PIGO(NM_001201484.1):c.191C>T (p.(Ala64Val)) - PIGO_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.355C>T - r.(?) p.(Arg119Trp) g.35095208G>A - - - PIGO_000019 - PubMed: Kuki et al. 2013 - - Germline - - - 0 - Philippe Campeau
+?/. 1 c.389C>A - r.(?) p.(Thr130Asn) g.35095174G>T - - - PIGO_000007 - PubMed: Nakamura et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. 1 c.389C>A - r.(?) p.(Thr130Asn) g.35095174G>T - - - PIGO_000007 - PubMed: Nakamura et al. 2014 - - Germline - - - 0 - Philippe Campeau
?/. - c.394A>G VUS r.(?) p.(Met132Val) g.35095169T>C - PIGO(NM_032634.3):c.394A>G (p.(Met132Val)) - PIGO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.394A>G VUS r.(?) p.(Met132Val) g.35095169T>C - PIGO(NM_032634.3):c.394A>G (p.(Met132Val)) - PIGO_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.458T>C - r.(?) p.(Phe153Ser) g.35095105A>G - - - PIGO_000013 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau
-?/. - c.469G>A likely benign r.(?) p.(Ala157Thr) g.35095094C>T - PIGO(NM_001201484.1):c.469G>A (p.(Ala157Thr)) - PIGO_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.581T>G VUS r.(?) p.(Phe194Cys) g.35094287A>C - PIGO(NM_032634.3):c.581T>G (p.(Phe194Cys)) - PIGO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.581T>G VUS r.(?) p.(Phe194Cys) g.35094287A>C - PIGO(NM_032634.3):c.581T>G (p.(Phe194Cys)) - PIGO_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.655+7A>C likely benign r.(=) p.(=) g.35094206T>G - PIGO(NM_032634.3):c.655+7A>C - PIGO_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.713G>A - r.(?) p.(Gly238Asp) g.35093964C>T - - - PIGO_000018 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.765G>A - r.(?) p.(Met255Ile) g.35093912C>T - - - PIGO_000021 - PubMed: Zehavi et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.765G>A - r.(?) p.(Met255Ile) g.35093912C>T - - - PIGO_000021 - PubMed: Zehavi et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1031T>A - r.(?) p.(Met344Lys) g.35093115A>T - - - PIGO_000011 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1031T>A - r.(?) p.(Met344Lys) g.35093115A>T - - - PIGO_000011 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.1109A>G VUS r.(?) p.(Asn370Ser) g.1505A>G - - - PIGO_000004 - - - - Germline - - - 0 - Junpei Tanigawa
+?/. - c.1109A>G - r.(?) p.(Asn370Ser) g.35093037T>C - - - PIGO_000004 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1109A>G - r.(?) p.(Asn370Ser) g.35093037T>C - - - PIGO_000004 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1109A>G - r.(?) p.(Asn370Ser) g.35093037T>C - - - PIGO_000004 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-/. - c.1119+7A>G benign r.(=) p.(=) g.35093020T>C - PIGO(NM_032634.3):c.1119+7A>G - PIGO_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1120G>C VUS r.(?) p.(Val374Leu) g.35092764C>G - PIGO(NM_001201484.1):c.1120G>C (p.(Val374Leu)) - PIGO_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1132C>T VUS r.(?) p.(Leu378Phe) g.35092752G>A - PIGO(NM_032634.3):c.1132C>T (p.Leu378Phe) - PIGO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1132C>T VUS r.(?) p.(Leu378Phe) g.35092752G>A - PIGO(NM_032634.3):c.1132C>T (p.Leu378Phe) - PIGO_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1224G>A likely benign r.(?) p.(=) g.35092660C>T - PIGO(NM_032634.3):c.1224G>A (p.Q408=) - PIGO_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 6 c.1288C>T - r.(?) p.(Gln430*) g.35092596G>A - - - PIGO_000008 - PubMed: Nakamura et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. 6 c.1288C>T - r.(?) p.(Gln430*) g.35092596G>A - - - PIGO_000008 - PubMed: Nakamura et al. 2014 - - Germline - - - 0 - Philippe Campeau
+?/. - c.1288C>T - r.(?) p.(Gln430*) g.35092596G>A - - - PIGO_000008 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1288C>T - r.(?) p.(Gln430*) g.35092596G>A - - - PIGO_000008 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1288C>T - r.(?) p.(Gln430*) g.35092596G>A - - - PIGO_000008 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.1306C>T - r.(?) p.(Arg436Trp) g.35092578G>A - - - PIGO_000017 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. 6 c.1355_1356del - r.(?) p.(Ala452Glyfs*53) g.35092528_35092529del - - - PIGO_000014 - PubMed: Xue et al. 2016 - - Germline - - - 0 - Philippe Campeau
-?/. - c.1487C>T likely benign r.(?) p.(Ala496Val) g.35092397G>A - PIGO(NM_032634.3):c.1487C>T (p.(Ala496Val)) - PIGO_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1748T>C likely pathogenic r.(?) p.(Leu583Pro) g.35092136A>G - PIGO(NM_032634.3):c.1748T>C (p.L583P) - PIGO_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1758C>T likely benign r.(?) p.(=) g.35092126G>A - PIGO(NM_032634.3):c.1758C>T (p.V586=) - PIGO_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.1810dupC - r.(?) p.(Arg604Profs*40) g.35092074dupG - - - PIGO_000016 - PubMed: Morren et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. - c.2069_2082del pathogenic r.(?) p.(Arg690Glnfs*33) g.35091803_35091816del - PIGO(NM_032634.3):c.2069_2082delGCTATGGTAATCTC (p.R690Qfs*33) - PIGO_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.2191dup likely pathogenic r.(?) p.(Arg731Profs*62) g.35091699dup - PIGO(NM_032634.3):c.2191dupC (p.R731Pfs*62) - PIGO_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2198G>A likely benign r.(?) p.(Arg733Gln) g.35091686C>T - PIGO(NM_032634.3):c.2198G>A (p.R733Q) - PIGO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2198G>A likely benign r.(?) p.(Arg733Gln) g.35091686C>T - PIGO(NM_032634.3):c.2198G>A (p.R733Q) - PIGO_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2361dup - r.(?) p.(Thr788Hisfs*5) g.35091523dup g.35091526dup - - PIGO_000002 p.Thr788Hisfs∗5 PIGO did not restore at all CD59 and uPAR levels in PIGO-deficient CHO cells. Compared with that of wild-type PIGO, the c.2361dup mutation resulted in an increased level of the truncated Thr788Hisfs∗ protein. PubMed: Krawitz et al. 2012 - - Germline yes - - 0 - Philippe Campeau
?/. - c.2397A>C VUS r.(?) p.(Gln799His) g.35091487T>G - PIGO(NM_032634.3):c.2397A>C (p.Q799H) - PIGO_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2497_2498del - r.(?) p.(Ala834Cysfs*131) g.35091386_35091387del - - - PIGO_000009 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.2497_2498del - r.(?) p.(Ala834Cysfs*131) g.35091386_35091387del - - - PIGO_000009 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
-?/. - c.2506A>G likely benign r.(?) p.(Met836Val) g.35091378T>C - PIGO(NM_032634.3):c.2506A>G (p.(Met836Val)) - PIGO_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.2612A>C - r.(?) p.(His871Pro) g.35091272T>G - - - PIGO_000015 - PubMed: Morren et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.2646del - r.(?) p.(Gly883Valfs*56) g.35091238del - - - PIGO_000010 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
?/. - c.2854+4C>T VUS r.spl? p.? g.35090459G>A - PIGO(NM_001201484.1):c.1603+4C>T (p.?) - PIGO_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.2869C>T - r.(?) p.(Leu957Phe) g.35090263G>A g.35090266G>A - - PIGO_000001 p.Leu957Phe affects the second of four leucine residues in a polyleucine stretch within a hydrophobic transmembrane domain of PIGO. The residue is evolutionarily highly conserved in most species. The effect of the detected substitution was classified as disease causing by MutationTaster and Polyphen. The heterozygote frequency of all three alleles in the European population is below 0.0005. In trasnfected PIGO-deficient CHO cells, Leu957Phe PIGO induced only very low levels of CD59 and uPAR. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO. PubMed: Krawitz et al. 2012 - rs142164373 Germline yes - - 0 - Philippe Campeau
./. - c.2869C>T - r.(?) p.(Leu957Phe) g.35090263G>A g.35090266G>A - - PIGO_000001 - - - - Germline - - - 0 - Philippe Campeau
?/. - c.2962G>A VUS r.(?) p.(Glu988Lys) g.35090170C>T - PIGO(NM_001201484.1):c.1711G>A (p.(Glu571Lys), p.(Glu988Lys)) - PIGO_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 9i c.3069+5G>A - r.2855_3069del p.Val952Aspfs g.35090058C>T g.35090061C>T - - PIGO_000003 variant results in aberrant splicing; according to data from the NHLBI Exome Sequencing Project, there is one heterozygous individual for this intronic mutation out of 5,379 tested individuals, which is consistent with the expected incidence of the disease. PubMed: Krawitz et al. 2012 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.3139A>G - r.(?) p.(Lys1047Glu) g.35089378T>C - - - PIGO_000012 - PubMed: Tanigawa et al. 2017 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.23497_23498del - r.(=) p.Ala834fs g.35068861_35068862del - - - PIGO_000020 - PubMed: Kuki et al. 2013 - - Germline - - - 0 - Philippe Campeau
Legend