All transcript variants in gene PIGW

Information The variants shown are described using the NM_178517.3 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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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.106A>G - r.(?) p.(Arg36Gly) g.34893056A>G - - - PIGW_000005 - - - - Germline yes - - 0 - Isabel Filges
+?/. - c.106A>G - r.(?) p.(Arg36Gly) g.34893056A>G - - - PIGW_000005 - - - - Germline yes - - 0 - Isabel Filges
+/. 2 c.199C>G - r.(?) p.(Pro67Ala) g.34893149C>G - - - PIGW_000006 Parents were heterozygous for the variant. This variant was reported to result in a semiconservative amino acid substitution that alters a conserved position within the protein. MutationTaster and PolyPhen-2 predicted the variant to be damaging while SIFT predicted the variant to be benign. - - - Germline - - - 0 - Philippe Campeau
+/. 2 c.199C>G - r.(?) p.(Pro67Ala) g.34893149C>G - - - PIGW_000006 Parents were heterozygous for the variant. This variant was reported to result in a semiconservative amino acid substitution that alters a conserved position within the protein. MutationTaster and PolyPhen-2 predicted the variant to be damaging while SIFT predicted the variant to be benign. - - - Germline - - - 0 - Philippe Campeau
+/. - c.211A>C - r.(?) p.(Thr71Pro) g.34893161A>C g.36537312A>C - - PIGW_000001 This mutation affects the second transmembrane domain. PIGW deficient CHO cells were transfected with Thr71Pro cDNA partiallly restored C59, DAF and uPAR levels whereas wild-type cDNA completely restored it. Protein expression of the Thr71Pro mutant was decreased to one-third of the wild-type level. Frequency of the variant c.211A>C is 0.004. PubMed: Chiyonobu et al. 2014 - rs587777733 Germline yes - - 0 - Philippe Campeau
+?/. - c.460A>G - r.(?) p.(Arg154Gly) g.34893410A>G - - - PIGW_000004 - PubMed: Hogrebe et al. 2016 - - Germline - - - 0 - Philippe Campeau
+?/. - c.460A>G - r.(?) p.(Arg154Gly) g.34893410A>G - - - PIGW_000004 - PubMed: Hogrebe et al. 2016 - - Germline - - - 0 - Philippe Campeau
+/. - c.499A>G - r.(?) p.(Met167Val) g.34893449A>G g.36537600A>G - - PIGW_000002 Transfection of the mutation M167V into PIGW-deficient CHO cells did not restore at all CD59, DAR et uPAR levels. PubMed: Chiyonobu et al. 2014 - rs200024253 Germline yes - - 0 - Philippe Campeau
?/. - c.512dup ACMG: 3 r.(?) p.Gly172Argfs*89 g.34893462dup - - - PIGW_000007 ACMG grading: PM2; so far only missense variants described as pathogenic / no second variant in PIGW detected in our patient - - - Germline - - - 0 - Andreas Laner
?/. - c.608T>G VUS r.(?) p.(Leu203Trp) g.34893558T>G - PIGW(NM_178517.3):c.608T>G (p.L203W) - MYO19_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.617_620del VUS r.(?) p.(Val206Glyfs*3) g.34893567_34893570del - PIGW(NM_178517.3):c.617_620delTTTG (p.V206Gfs*3) - MYO19_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1068A>G likely benign r.(?) p.(=) g.34894018A>G - PIGW(NM_178517.3):c.1068A>G (p.V356=) - MYO19_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1202del VUS r.(?) p.(Leu401Glnfs*6) g.34894152del - PIGW(NM_178517.3):c.1202delT (p.(Leu401GlnfsTer6)) - MYO19_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1241T>C VUS r.(?) p.(Ile414Thr) g.34894191T>C - PIGW(NM_178517.3):c.1241T>C (p.(Ile414Thr)) - PIGW_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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