All transcript variants in gene PIGB

Information The variants shown are described using the NM_004855.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.212G>A r.(212g>a) p.(Arg71Gln) - recessive g.55612521G>A g.55320323G>A - - PIGB_000002 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
?/. - c.268T>C r.(?) p.(Ser90Pro) - VUS g.55612577T>C g.55320379T>C PIGB(NM_004855.5):c.268T>C (p.S90P) - PIGB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/+? - c.268T>C r.(268u>c) p.(Ser90Pro) - VUS g.55612577T>C g.55320379T>C - - PIGB_000001 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/+ - c.392T>G r.(392u>g) p.(Leu131*) - pathogenic (recessive) g.55613563T>G g.55321365T>G - - PIGB_000007 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+?/+? - c.463G>C r.463G>C p.Asp155His - recessive g.55619774G>C g.55327576G>C - - PIGB_000010 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline/De novo (untested) - - - 0 - Philippe Campeau
+/+ - c.695G>A r.(695g>a) p.(Arg232His) - pathogenic (recessive) g.55626106G>A g.55333908G>A - - PIGB_000003 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.847-10A>G r.(?) p.(Gln282_Trp283insArgCysGln) - pathogenic (recessive) g.55632800A>G g.55340602A>G - - PIGB_000006 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.847-10A>G r.(?) p.(Gln282_Trp283insArgCysGln) - pathogenic (recessive) g.55632800A>G g.55340602A>G - - PIGB_000006 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.847-10A>G r.(?) p.(Gln282_Trp283insArgCysGln) - pathogenic (recessive) g.55632800A>G g.55340602A>G - - PIGB_000006 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.847-10A>G r.847-10A>G p.Gln282_Trp283insArgCysGln - recessive g.55632800A>G g.55340602A>G - - PIGB_000006 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.856G>C r.(856g>c) p.(Val286Leu) - pathogenic (recessive) g.55632819G>C g.55340621G>C - - PIGB_000004 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.1162G>C r.(1162g>c) p.Ala388Pro - recessive g.55642935G>C g.55350737G>C - - PIGB_000009 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.1220A>G r.(1220a>g) p.(His407Arg) - pathogenic (recessive) g.55642993A>G g.55350795A>G - - PIGB_000005 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
+/+ - c.1611A>G r.(1611a>g) p.(Ile537Met) - pathogenic (recessive) g.55647576A>G g.55355378A>G - - PIGB_000008 - PubMed: Murakami 2019, Journal: Murakami 2019 - - Germline - - - 0 - Philippe Campeau
?/. - c.*4759A>C r.(=) - - VUS g.55652389A>C g.55360191A>C CCPG1(NM_004748.4):c.1582T>G (p.S528A) - CCPG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.*77104G>A r.(=) - - likely pathogenic g.55724734G>A g.55432536G>A DNAAF4(NM_130810.4):c.1114C>T (p.R372C) - CCPG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*79534T>A r.(=) - - VUS g.55727164T>A g.55434966T>A DYX1C1(NM_001033559.2):c.986A>T (p.(Asn329Ile)) - CCPG1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*84052T>A r.(=) - - likely benign g.55731682T>A g.55439484T>A DYX1C1(NM_001033559.2):c.881A>T (p.(Lys294Met)) - CCPG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*84124C>G r.(=) - - VUS g.55731754C>G g.55439556C>G DYX1C1(NM_001033559.2):c.809G>C (p.(Arg270Pro)) - CCPG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*84150C>T - - - likely pathogenic g.55731780C>T g.55439582C>T DNAAF4(NM_130810.4):c.784-1G>A - CCPG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.*111593A>C r.(=) - - pathogenic g.55759223A>C g.55467025A>C DNAAF4(NM_130810.3):c.542T>G (p.L181*) - CCPG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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