Full data view for gene PKLR

Information The variants shown are described using the NM_000298.5 transcript reference sequence.

201 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.1454C>T - r.(?) p.(Ser485Phe) Parent #1 - pathogenic (recessive) g.155261711G>A - - - PKLR_000017 - PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat26 PubMed: Lenzner 1997 - - - Germany - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Beutler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4 PubMed: Beutler 2000 - - - United States white - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Beutler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat8 PubMed: Beutler 2000 - - - United States white - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat37 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Beutler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat11 PubMed: Beutler 2000 - - - United States white - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Ser485Phe) Both (homozygous) - pathogenic (recessive) g.155261711G>A - - - PKLR_000017 - PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat24 PubMed: Lenzner 1997 - - - England - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat27 PubMed: Lenzner 1997 - - - Germany - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat28 PubMed: Lenzner 1997 - - - Germany - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat1 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat3 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat3 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat4 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat4 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat5 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat7 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat11 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - Canada white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat13 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 no variant 2nd chromosome; DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat16 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat17 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat17 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat19 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat20 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat21 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat22 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat22 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat23 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat23 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat24 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat25 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat26 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat26 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat30 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat30 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB; PK type Aprica, {PKLR:510gln} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency DA;Pat26 PubMed: Zanella 1997, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A Aprica r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB; {PKLR:510gln} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency ZM;Pat16 PubMed: Zanella 1997, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Zanella 2001 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat15 PubMed: Zanella 2001 - - - - Northern Europe - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Zanella 2001 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat16 PubMed: Zanella 2001 - - - - Northern Europe - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2003 - - Germline - - StyI - - DNA SEQ - - Healthy/Control carriers PubMed: Van Wijk 2003 4 unaffected compound heterozygous carriers - - Denmark - - - - - 4 Richard van Wijk
+/. 11 c.1529G>A - r.1529g>a p.Arg510Gln Paternal (confirmed) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2003 - - Germline - - StyI - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency Pat1 PubMed: Van Wijk 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Denmark - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat16;Pat31 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam10 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam12 PubMed: Pissard 2006 family, 2 affected - - France - - - - - 2 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam18 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam27 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam31 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam34 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam36 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam37 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam7 PubMed: Pissard 2006 family, 2 affected - - France - - - - - 2 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 no variant 2nd chromosome; DI(A), HB, {PKLR:510gln} PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - favism, pyr.kin. deficiency Fam43 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2 PubMed: Pissard 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Maternal (confirmed) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pissard 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat5 PubMed: Pissard 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Paternal (confirmed) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Raphael 2007, PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Case2;Pat29 PubMed: Raphael 2007, PubMed: Van Wijk 2009 - F - Netherlands - 00y04m - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} Durand and Coetzer, 2008 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - South Africa - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A Paris r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T A1529 (Arg509Gln) - PKLR_000017 DI(A), HB {PKLR:510gln} PubMed: Rouger 1996 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Rouger 1996 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - United Kingdom (Great Britain) white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - United Kingdom (Great Britain) - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Canada French - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 unknown variant 2nd chromosome; DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1995 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat13 PubMed: Baronciani 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Baronciani 1995 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat12 PubMed: Baronciani 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A Hamburg r.(?) p.(Arg510Gln) Parent #1 - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 no variant 2nd chromosome; DI(A), HB {PKLR:510gln} PubMed: Lakomek 1994 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Case3-SS PubMed: Lakomek 1994, PubMed: Kugler 1999 - M - Germany - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A Köln r.(?) p.(Arg510Gln) Parent #1 - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 no variant 2nd chromosome; DI(A), HB {PKLR:510gln} PubMed: Lakomek 1994 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Case4-NB PubMed: Lakomek 1994 - F - Germany - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2;Pat2 PubMed: Lenzner 1994, PubMed: Lenzner 1997 2-generation family, 2 affected, brothers unaffected heterozygous carrier parents M - United Kingdom (Great Britain) - - - - - 2 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat12;Pat12 PubMed: Lenzner 1994, PubMed: Lenzner 1997 - - - United Kingdom (Great Britain) - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat15 PubMed: Lenzner 1997 - - - Germany - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat17 PubMed: Lenzner 1997 - - - Slovakia (Slovak Republic) - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat19 PubMed: Lenzner 1997 - - - Slovakia (Slovak Republic) - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Paternal (confirmed) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Solinge 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam1PatIII1 PubMed: Van Solinge 1997 - M - Denmark - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Pastore 1998 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat1 PubMed: Pastore 1998 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Beutler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat12 PubMed: Beutler 2000 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Branca 2004 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Percy 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Ireland - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Yavarian 2008 - - Germline - 11/148 chromosomes cases - - - DNA SEQ - - pyr.kin. deficiency - PubMed: Yavarian 2008 analysis 74 individuals reduced PK activity - - Iran - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Titapiwatanakun 2008 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - - white - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat33 PubMed: Van Wijk 2009 - M - Denmark - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat9 PubMed: Van Wijk 2009 - F - Netherlands - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat12 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat20 PubMed: Van Wijk 2009 - - - Netherlands - - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat10 PubMed: Van Wijk 2009 - F - United States African American - - - - 1 Richard van Wijk
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 DI(A), HB, {PKLR:510gln} PubMed: Raphael 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Case1 PubMed: Raphael 2007 - F - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Unknown - pathogenic g.155261636C>T - PKLR(NM_000298.6):c.1529G>A (p.R510Q) - PKLR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat19 PubMed: Van Wijk 2009 - F - Finland - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat16 PubMed: Van Wijk 2009 - F - Denmark - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat31 PubMed: Van Wijk 2009 - F - Netherlands China - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat11 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Van Wijk 2009 - F - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Parent #2 - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat25 PubMed: Van Wijk 2009 - F - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T - - - PKLR_000017 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat38 PubMed: Van Wijk 2009 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat6 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat14 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat15 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat18 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat20 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat22 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Both (homozygous) - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat86 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1529G>A - r.(?) p.(Arg510Gln) Parent #1 - pathogenic (recessive) g.155261636C>T g.155291845C>T - - PKLR_000017 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat93 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
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