Unique variants in gene PIGK

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

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

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     
+?/. 1 - c.94-1G>C r.spl? p.? - pathogenic (recessive) g.77676175C>G g.77210490C>G - - PIGK_000007 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 1 - c.97C>T r.(?) p.(Gln33*) - pathogenic (recessive) g.77676171G>A g.77210486G>A - - PIGK_000006 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 2 - c.158C>T r.(?) p.Ser53Phe - pathogenic (recessive) g.77672406G>A g.77206721G>A - - PIGK_000003 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - - - Philippe Campeau, Johan den Dunnen
?/. 2 - c.239+11150A>G r.(=) p.(=) - likely benign g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.257T>C r.(?) p.(Leu86Pro) - pathogenic (recessive) g.77635063A>G g.77169378A>G - - PIGK_000009 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 2 - c.260C>T r.(?) p.(Ala87Val) - pathogenic (recessive) g.77635060G>A g.77169375G>A - - PIGK_000004 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - - - Philippe Campeau, Johan den Dunnen
+?/. 3 - c.262G>A r.(?) p.(Asp88Asn) - pathogenic (recessive) g.77635058C>T g.77169373C>T - - PIGK_000010 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - - - Philippe Campeau, Johan den Dunnen
+/., +?/. 3 - c.479A>C r.(?) p.(Tyr160Ser) - pathogenic (recessive) g.77632412T>G g.77166727T>G - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 1 - c.551C>T r.(?) p.(Ala184Val) - pathogenic (recessive) g.77629564G>A g.77163879G>A - - PIGK_000008 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 1 - c.737T>A r.(?) p.(Met246Lys) - pathogenic (recessive) g.77627056A>T g.77161371A>T - - PIGK_000011 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - - - Philippe Campeau
+/. 2 - c.823T>C r.(?) p.Cys275Arg - pathogenic (recessive) g.77620297A>G g.77154612A>G - - PIGK_000002 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - - - Philippe Campeau, Johan den Dunnen
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