Full data view for gene PIGK

Information The variants shown are described using the NM_005482.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.94-1G>C r.spl? p.? Maternal (confirmed) - pathogenic (recessive) g.77676175C>G g.77210490C>G - - PIGK_000007 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam4PatII1 Ind4 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Egypt - - 0 - - 1 Philippe Campeau
+/. - c.97C>T r.(?) p.(Gln33*) Maternal (confirmed) - pathogenic (recessive) g.77676171G>A g.77210486G>A - - PIGK_000006 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam3PatII1 Ind3 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France Maghreb - 0 - - 1 Philippe Campeau
+/. - c.158C>T r.(?) p.Ser53Phe Maternal (confirmed) - pathogenic (recessive) g.77672406G>A g.77206721G>A - - PIGK_000003 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam1PatII1 Ind1A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India Asia - 0 - - 2 Philippe Campeau
+/. - c.158C>T r.(?) p.Ser53Phe Maternal (confirmed) - pathogenic (recessive) g.77672406G>A g.77206721G>A - - PIGK_000003 - - - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam1PatII3 Ind1B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M no India - - 0 - - 1 Johan den Dunnen
?/. - c.239+11150A>G r.(=) p.(=) Unknown - likely benign g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.239+11150A>G r.(=) p.(=) Unknown - likely benign g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. - c.257T>C r.(?) p.(Leu86Pro) Both (homozygous) - pathogenic (recessive) g.77635063A>G g.77169378A>G - - PIGK_000009 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam6PatII1 Ind6 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Nigeria Igbo tribe - 0 - - 1 Philippe Campeau
+/. - c.260C>T r.(?) p.(Ala87Val) Both (homozygous) - pathogenic (recessive) g.77635060G>A g.77169375G>A - - PIGK_000004 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam2PatII1 Ind2A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Italy - - 0 - - 2 Philippe Campeau
+/. - c.260C>T r.(?) p.(Ala87Val) Both (homozygous) - pathogenic (recessive) g.77635060G>A g.77169375G>A - - PIGK_000004 - - - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam2PatII2 Ind2B PubMed: Nguyen 2020, Journal: Mattioli 2020 - F yes Italy - - 0 - - 1 Johan den Dunnen
+?/. - c.262G>A r.(?) p.(Asp88Asn) Both (homozygous) - pathogenic (recessive) g.77635058C>T g.77169373C>T - - PIGK_000010 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam8PatV1 Ind8 PubMed: Nguyen 2020, Journal: Mattioli 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents F yes Pakistan - - 0 - - 1 Philippe Campeau
+?/. - c.262G>A r.(?) p.(Asp88Asn) Both (homozygous) - pathogenic (recessive) g.77635058C>T g.77169373C>T - - PIGK_000010 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam9PatII1 Ind9A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected BROTHERS, unaffected heterozygous carrier parents M yes Pakistan - - 0 - - 2 Philippe Campeau
+?/. - c.262G>A r.(?) p.(Asp88Asn) Both (homozygous) - pathogenic (recessive) g.77635058C>T g.77169373C>T - - PIGK_000010 - - - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam9PatII2 Ind9B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M yes Pakistan - - 0 - - 1 Johan den Dunnen
+/. - c.479A>C r.(?) p.(Tyr160Ser) Paternal (confirmed) - pathogenic (recessive) g.77632412T>G g.77166727T>G - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam3PatII1 Ind3 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France Maghreb - 0 - - 1 Philippe Campeau
+?/. - c.479A>C r.(?) p.(Tyr160Ser) Paternal (confirmed) - pathogenic (recessive) g.77632412T>G g.77166727T>G - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam4PatII1 Ind4 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.479A>C r.(?) p.(Tyr160Ser) Both (homozygous) - pathogenic (recessive) g.77632412T>G g.77166727T>G - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam5PatIV1 Ind5 PubMed: Nguyen 2020, Journal: Mattioli 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - 0 - - 1 Philippe Campeau
+/. - c.551C>T r.(?) p.(Ala184Val) Maternal (confirmed) - pathogenic (recessive) g.77629564G>A g.77163879G>A - - PIGK_000008 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam7PatII1 Ind7 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - 0 - - 1 Philippe Campeau
+/. - c.737T>A r.(?) p.(Met246Lys) Paternal (confirmed) - pathogenic (recessive) g.77627056A>T g.77161371A>T - - PIGK_000011 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - DNA SEQ-NG - - GPIBD Fam7PatII1 Ind7 PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - 0 - - 1 Philippe Campeau
+/. - c.823T>C r.(?) p.Cys275Arg Paternal (confirmed) - pathogenic (recessive) g.77620297A>G g.77154612A>G - - PIGK_000002 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam1PatII1 Ind1A PubMed: Nguyen 2020, Journal: Mattioli 2020 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no India Asia - 0 - - 2 Philippe Campeau
+/. - c.823T>C r.(?) p.Cys275Arg Paternal (confirmed) - pathogenic (recessive) g.77620297A>G g.77154612A>G - - PIGK_000002 - - - - Germline yes - - 0 - DNA SEQ-NG - - GPIBD Fam1PatII3 Ind1B PubMed: Nguyen 2020, Journal: Mattioli 2020 - M no India - - 0 - - 1 Johan den Dunnen
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