Full data view for gene PIGL

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

12 entries on 1 page. Showing entries 1 - 12.
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+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic 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 - - - - DNA SEQ-NG - - CHIME;GPIBD5 22444671-Fam PubMed: Ng 2012 Two siblings with Zunich neuroectodermal syndrome. ? no - - - - - - 2 Philippe Campeau
+/. 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic 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 - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome. - - - - - - - - 1 Philippe Campeau
+/. 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic 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 - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome, one mutation in PIGL found. - - - - - - - - 1 Philippe Campeau
+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic 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 - - - - DNA SEQ-NG - - CHIME;GPIBD5 - PubMed: Ng 2012 Index case with CHIME syndrome M no - - - - - - 1 Philippe Campeau
+/+ 5 c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic 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 - - - - - DNA SEQ-NG - - CHIME;GPIBD5 22444671-Pat33300 PubMed: Ng 2012, case described in PubMed: Tinschert 1996 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F no Germany - - - - - 1 Philippe Campeau
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - likely pathogenic g.16220000T>C g.16316686T>C - - PIGL_000002 - PubMed: Ceroni et al. 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CHIME;GPIBD5 - PubMed: Ceroni 2018 - M no Brazil - - - - - 1 Philippe Campeau
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - pathogenic g.16220000T>C g.16316686T>C PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500T>C r.(?) p.(Leu167Pro) Both (homozygous) - VUS g.16220000T>C g.16316686T>C - - PIGL_000002 conflicting interpretations of pathogenicity; 1 homozygous, no heterozygous ; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs145303331 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.500T>C r.(?) p.(Leu167Pro) Unknown - VUS g.16220000T>C - PIGL(NM_004278.3):c.500T>C (p.L167P, p.(Leu167Pro)), PIGL(NM_004278.4):c.500T>C (p.L167P) - PIGL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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