All transcript variants in gene PIGL

Information The variants shown are described using the NM_004278.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     
+?/. _1_1 c.-652_150del - r.? p.? g.16119889_16120690del - chr7: 16,119,889-16,120,690 - PIGL_000013 - PubMed: Ceroni et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. _1_7_ c.0 - r.0 p.0 g.(15000000_15680029)_(16757764_17000000)del - hg18 15,620,754–16,698,489del del 17p12-p11.2 PIGL_000014 - PubMed: Ng et al. 2012 - - Germline - - - 0 - Philippe Campeau
+?/. - c.36_48del - r.(?) p.(Val13Alafs*11) g.16120576_16120588del - - - PIGL_000008 - PubMed: Fujiwara et al. 2015 - - Germline - - - 0 - Philippe Campeau
?/. - c.48G>A - r.(?) p.(Trp16*) g.16120588G>A - - - PIGL_000010 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. - c.60G>A - r.(?) p.(Trp20*) g.16120600G>A - - - PIGL_000015 Compound Heterozygous. Two variants in PIGL gene. This is a nonsense (c.60G > A; p.Trp20Ter; W20X) pathogenic variant. It was interpreted as pathogenic as it causes loss of normal protein function through truncation or nonsense-mediated mRNA decay. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.60G>A - r.(?) p.(Trp20*) g.16120600G>A - - - PIGL_000015 Compound heterozygous. The first variant (c.60G > A; p.Trp20Ter; W20X) is a nonsense variant and was interpreted as pathogenic as it causes loss of normal protein function through truncation or nonsense-mediated mRNA decay. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+?/. - c.254_255del - r.(?) p.(Glu86Aspfs*2) g.16137303_16137304del - - - PIGL_000007 - PubMed: Fujiwara et al. 2015 - - Germline - - - 0 - Philippe Campeau
+/. - c.262C>T - r.(?) p.(Arg88Cys) g.16137311C>T - - - PIGL_000016 Compound heterozygous variants in the PIGL gene. This is a missense (c.262C > T; p.Arg88Cys; R88C) variant. in silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.262C>T - r.(?) p.(Arg88Cys) g.16137311C>T - - - PIGL_000016 Compound heterozygous variants in the PIGL gene. This is a missense (c.262C > T; p.Arg88Cys; R88C) variant. in silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.262C>T - r.(?) p.(Arg88Cys) g.16137311C>T - - - PIGL_000016 Compound heterozygous. This second variant is a missense (c.262C > T; p.Arg88Cys; R88C) variant. In silico analysis predicted it as likely damaging the protein structure and function. - - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. 2 c.274del - r.(?) p.(Leu92Phefs*15) g.16137323del g.16234009del 274delC - PIGL_000001 cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - - Germline yes - - 0 - Philippe Campeau
+?/. - c.336-2A>G - r.spl? p.? g.16203200A>G - - - PIGL_000011 - PubMed: Pagnamenta et al. 2017 - - Germline - - - 0 - Philippe Campeau
-?/. - c.424C>A likely benign r.(?) p.(Leu142Met) g.16203290C>A - PIGL(NM_004278.3):c.424C>A (p.(Leu142Met)) - PIGL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.426+6654_660+3131del - r.(?) p.(Val143_Lys220del) g.16209946_16224353del - - - PIGL_000009 - PubMed: Johnson et al. 2017 - - Unknown - - - 0 - Philippe Campeau
-?/. - c.427-3del likely benign r.spl? p.? g.16216858del - PIGL(NM_004278.3):c.427-3del (p.?) - PIGL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 3i c.427-1G>A - r.spl? p.? g.16216860G>A g.16313546G>A - - PIGL_000004 Cell lines derived from this cas had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - - Germline yes - - 0 - Philippe Campeau
+/+ 5 c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C g.16316686T>C - - PIGL_000002 Heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. In (NHLBI) Exome Sequencing Project, this mutation appears at a frequency of 6:10,752 alleles. (NHLBI) Exome Sequencing Project, the c.500T>C mutation appears at a frequency of 6:10,752 alleles. Cells available from CHIME syndrome cases werr deficient for GPI anchor markers (C59 and FLAER) PubMed: Ng et al. 2012 - rs145303331 Germline yes - - 0 - Philippe Campeau
+/. 5 c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation found in the patient is at a highly conserved residue located in the catalytic domain and predicted by both PolyPhen and SIFT to be damaging. Utilizing two large public databases, we found the heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. Cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs145303331 Germline yes - - 0 - Philippe Campeau
+/. 5 c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation alters a conserved residue in the catalytic domain. It is predicted to be damaging by PolyPhen and SIFT. cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs145303331 Germline yes - - 0 - Philippe Campeau
+/+ 5 c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C g.16316686T>C - - PIGL_000002 This mutation alters a conserved residue in the catalytic domain. This is predicted damagind by PolyPhen and SIFT. Utilizing two large public databases, we found the heterozygous missense mutation c.500T>C in eight out of nearly 13,000 alleles. Cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al 2012 - rs145303331 Germline yes - - 0 - Philippe Campeau
+/+ 5 c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C g.16316686T>C - - PIGL_000002 Mutation alters a conserved residue in the catalytic domain. Predicted to be damaging by PolyPhen and SIFT. cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al 2012 - rs145303331 Germline - - - 0 - Philippe Campeau
+/. - c.500T>C pathogenic r.(?) p.(Leu167Pro) g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.500T>C pathogenic r.(?) p.(Leu167Pro) g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.500T>C - r.(?) p.(Leu167Pro) g.16220000T>C - - - PIGL_000002 - PubMed: Ceroni et al. 2018 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/. - c.500T>C pathogenic r.(?) p.(Leu167Pro) g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.500T>C pathogenic r.(?) p.(Leu167Pro) g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.526+10G>A benign r.(=) p.(=) g.16220036G>A - PIGL(NM_004278.3):c.526+10G>A - PIGL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.565C>T likely benign r.(?) p.(Arg189Cys) g.16221127C>T - PIGL(NM_004278.3):c.565C>T (p.(Arg189Cys)) - PIGL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.628G>C likely benign r.(?) p.(Val210Leu) g.16221190G>C - PIGL(NM_004278.3):c.628G>C (p.(Val210Leu)) - PIGL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 6 c.652C>T - r.(?) p.(Gln218*) g.16221214C>T g.16317900C>T - - PIGL_000003 cell lines derived from these cases had significantly reduced levels of the two GPI anchor markers, CD59 and a GPI-binding toxin, aerolysin (FLAER), confirming the pathogenicity of the mutations. PubMed: Ng et al. 2012 - rs139004722 Germline yes - - 0 - Philippe Campeau
+/. - c.701G>A - r.(?) p.(Arg234His) g.16229154G>A - - - PIGL_000017 - - - - Germline - - - 0 - Philippe Campeau
+/. - c.701G>A - r.(?) p.(Arg234His) g.16229154G>A - NM_004278.3 c.701G>A p.Arg234His - PIGL_000017 - - - - Germline - - - 0 - Philippe Campeau
+/. - c.701G>A - r.(?) p.(Arg234His) g.16229154G>A - NM_004278.3 c.701G>A p.Arg234His - PIGL_000017 - - - - Germline - - - 0 - Philippe Campeau
-/. - c.*20A>G benign r.(=) p.(=) g.16229232A>G - PIGL(NM_004278.3):c.*20A>G (p.?) - PIGL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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