Full data view for gene PKLR

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

148 entries on 2 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     
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat2 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Baronciani 1993, PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat8 PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat15 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat18 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Baronciani and Beutler, 1995 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat27 PubMed: Baronciani and Beutler 1995 - - - United States white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH; PK type Milano, {PKLR:486trp} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency MM;PAt50 PubMed: Zanella 1997, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T Milano r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH; {PKLR:486trp} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency AI;Pat40 PubMed: Zanella 1997, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T Milano r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH; {PKLR:486trp} PubMed: Zanella 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency RGC PubMed: Zanella 1997 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T Milano r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH; {PKLR:486trp} PubMed: Zanella 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency MC PubMed: Zanella 1997 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH; PK type Milano, {PKLR:486trp} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency SC;Pat43 PubMed: Zanella 1997, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH; PK type Milano, {PKLR:486trp} PubMed: Zanella 1997, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency PL;Pat44 PubMed: Zanella 1997, PubMed: Zanella 2007 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - pyr.kin. deficiency Pat5 PubMed: Manco 1999 - M - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - pyr.kin. deficiency Pat6 PubMed: Manco 1999 - F - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 1999 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat7 PubMed: Manco 1999 - F - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 1999 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat8 PubMed: Manco 1999 - F - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 1999 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat9 PubMed: Manco 1999 - F - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.1456c>u p.Arg486Trp Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 2000 - - Germline - - - - - DNA SEQ, SSCA - - pyr.kin. deficiency Pat3 PubMed: Manco 2000 - M - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.1456c>u p.Arg486Trp Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Manco 2000 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - pyr.kin. deficiency Pat4 PubMed: Manco 2000 - F - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat1;Pat42 PubMed: Zanella 2001, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2;Pat46 PubMed: Zanella 2001, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Zanella 2001 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4 PubMed: Zanella 2001 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat5;Pat36 PubMed: Zanella 2001, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat7 PubMed: Zanella 2001 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat8;Pat19 PubMed: Zanella 2001, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat9;Pat21 PubMed: Zanella 2001, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat11;Pat20 PubMed: Zanella 2001, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zanella 2001, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat13;Pat18 PubMed: Zanella 2001, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat2;Pat17 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat10;Pat48 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A 1465T - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat14;Pat49 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat15;Pat41 PubMed: Fermo 2005, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat17;Pat36 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Belgium - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat18;Pat35 PubMed: Fermo 2005, PubMed: Zanella 2007 - M - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A 1465T - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Fermo 2005, PubMed: Zanella 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat20;Pat45 PubMed: Fermo 2005, PubMed: Zanella 2007 - F - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam1 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A Arg486Trp - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam19 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam22 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam23 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam24 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam26 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam29 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam30 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam32 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam33 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam35 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam37 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam9 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam51 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam52 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam55 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2006 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Fam56 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Maternal (confirmed) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pissard 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat4 PubMed: Pissard 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France white - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Coutinho et al. 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Paternal (confirmed) - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Coutinho et al. 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Portugal - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Belgium - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - (United Kingdom (Great Britain)) - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} Van Wijk unpublished - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - - Kurdish - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Lenzner 1997 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat25 PubMed: Lenzner 1997 - - - England - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Pastore 1998 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat5 PubMed: Pastore 1998 - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Zarza 1998 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat5 PubMed: Zarza 1998 - F - Spain - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Percy 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Percy 2007 - - - Ireland - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Yavarian 2008 - - Germline - 8/148 chromosomes cases - - - DNA SEQ - - pyr.kin. deficiency - PubMed: Yavarian 2008 analysis 74 individuals reduced PK activity - - Iran - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency PP PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat34 PubMed: Van Wijk 2009 - M - Denmark - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat15 PubMed: Van Wijk 2009 - F - Netherlands - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat28 PubMed: Van Wijk 2009 - M - Faroe Islands - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Perseu 2010 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Italy - - - - - 1 Richard van Wijk
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Unknown - pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 DI(A), HB, SH, {PKLR:486trp} PubMed: Minucci 2011 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - - - - - - - 1 Richard van Wijk
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Paternal (confirmed) - pathogenic g.155261709G>A - - - PKLR_000018 - PubMed: Pissard 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat3 PubMed: Pissard 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France white - - - - 1 Richard van Wijk
+?/. - c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - likely pathogenic g.155261709G>A g.155291918G>A - - PKLR_000018 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116100695 Germline - 20/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
?/. - c.1456C>T - r.(?) p.(Arg486Trp) Unknown - VUS g.155261709G>A - PKLR(NM_000298.6):c.1456C>T (p.R486W) - PKLR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A - - - PKLR_000018 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat13 PubMed: Van Wijk 2009 - M - Faroe Islands - - - - - 1 Richard van Wijk
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A - - - PKLR_000018 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat7 PubMed: Van Wijk 2009 - M - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A - - - PKLR_000018 - PubMed: Van Wijk 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat20 PubMed: Van Wijk 2009 - - - Netherlands - - - - - 1 Richard van Wijk
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Parent #2 - pathogenic (recessive) g.155261709G>A - - - PKLR_000018 - PubMed: Jaouani 2017 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency FamIIPatI2 PubMed: Jaouani 2017 mother F - Tunisia - - - - - 1 Johan den Dunnen
+/. - c.1456C>T - r.(?) p.(Arg486Trp) Paternal (inferred) - pathogenic (recessive) g.155261709G>A - - - PKLR_000018 - PubMed: Jaouani 2017 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency FamIIIPatII1 PubMed: Jaouani 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Tunisia - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat9 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat10 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat74 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat75 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat77 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat78 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat81 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat82 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat83 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat87 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Both (homozygous) - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat88 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat89 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat91 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat92 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat94 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat95 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat96 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat112 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat113 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat124 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat171 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat172 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. 11 c.1456C>T - r.(?) p.(Arg486Trp) Parent #1 - pathogenic (recessive) g.155261709G>A g.155291918G>A - - PKLR_000018 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat173 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
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