All transcript variants in 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)     

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.94-1G>C pathogenic (recessive) r.spl? p.? g.77676175C>G - - - PIGK_000007 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.97C>T pathogenic (recessive) r.(?) p.(Gln33*) g.77676171G>A - - - PIGK_000006 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.158C>T pathogenic (recessive) r.(?) p.Ser53Phe g.77672406G>A - - - PIGK_000003 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - Philippe Campeau
+/. - c.158C>T pathogenic (recessive) r.(?) p.Ser53Phe g.77672406G>A - - - PIGK_000003 - - - - Germline yes - - 0 - Johan den Dunnen
?/. - c.239+11150A>G likely benign - p.(=) g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - Yu Sun
?/. - c.239+11150A>G likely benign - p.(=) g.77661175T>C g.77195490T>C - - PIGK_000001 - - - - Germline - - - - - Yu Sun
+?/. - c.257T>C pathogenic (recessive) r.(?) p.(Leu86Pro) g.77635063A>G - - - PIGK_000009 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.260C>T pathogenic (recessive) r.(?) p.(Ala87Val) g.77635060G>A - - - PIGK_000004 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - Philippe Campeau
+/. - c.260C>T pathogenic (recessive) r.(?) p.(Ala87Val) g.77635060G>A - - - PIGK_000004 - - - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.262G>A pathogenic (recessive) r.(?) p.(Asp88Asn) g.77635058C>T - - - PIGK_000010 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+?/. - c.262G>A pathogenic (recessive) r.(?) p.(Asp88Asn) g.77635058C>T - - - PIGK_000010 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+?/. - c.262G>A pathogenic (recessive) r.(?) p.(Asp88Asn) g.77635058C>T - - - PIGK_000010 - - - - Germline yes - - 0 - Johan den Dunnen
+/. - c.479A>C pathogenic (recessive) r.(?) p.(Tyr160Ser) g.77632412T>G - - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+?/. - c.479A>C pathogenic (recessive) r.(?) p.(Tyr160Ser) g.77632412T>G - - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+?/. - c.479A>C pathogenic (recessive) r.(?) p.(Tyr160Ser) g.77632412T>G - - - PIGK_000005 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.551C>T pathogenic (recessive) r.(?) p.(Ala184Val) g.77629564G>A - - - PIGK_000008 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.737T>A pathogenic (recessive) r.(?) p.(Met246Lys) g.77627056A>T - - - PIGK_000011 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline - - - 0 - Philippe Campeau
+/. - c.823T>C pathogenic (recessive) r.(?) p.Cys275Arg g.77620297A>G - - - PIGK_000002 - PubMed: Nguyen 2020, Journal: Mattioli 2020 - - Germline yes - - 0 - Philippe Campeau
+/. - c.823T>C pathogenic (recessive) r.(?) p.Cys275Arg g.77620297A>G - - - PIGK_000002 - - - - Germline yes - - 0 - Johan den Dunnen
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