Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - VUS g.103237454T>C g.102843676T>C PAH(NM_000277.3):c.1169A>G (p.E390G) - PAH_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic g.103237454T>C g.102843676T>C PAH(NM_000277.3):c.1169A>G (p.E390G) - PAH_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169A>G r.(?) p.(Glu390Gly) Both (homozygous) - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat121 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Michoacan - - - - 1 Liliana Fernández
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat23 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California - - - - 1 Liliana Fernández
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat69 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat87 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - - - - 1 Liliana Fernández
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat106 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1169A>G p.Glu390Gly p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C 1169G>A (Glu390Gly) - PAH_000150 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F8C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1169A>G p.Glu390Gly p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C 1169G>A (Glu390Gly) - PAH_000150 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F18C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1169A>G p.Glu390Gly p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C 1169G>A (Glu390Gly) - PAH_000150 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F29C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Both (homozygous) - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 14/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C - - - PAH_000150 - PubMed: Trujillano 2014 - rs5030856 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C - - - PAH_000150 - PubMed: Trujillano 2014 - rs5030856 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic g.103237454T>C g.102843676T>C - - PAH_000150 no variant 2nd chromosome PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Groselj 2012 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic (recessive) g.103237454T>C g.102843676T>C [1169A>G];[194T>C];[1171A>G] - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - PubMed: Ferreira 2021 - - Germline - 5/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Both (homozygous) - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat363 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Both (homozygous) - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat437 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat444 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Both (homozygous) - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat471 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat554 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat292 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat490 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat1 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #1 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat28 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat38 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat47 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 7/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 7 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Parent #2 - pathogenic (recessive) g.103237454T>C g.102843676T>C E390G - PAH_000150 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 11 c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 allelic phenotype value 6.8, variant associated with mild PKU-mild HPA PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1169A>G r.(?) p.(Glu390Gly) Maternal (confirmed) - pathogenic (recessive) g.103237454T>C - E390G - PAH_000150 variant initially scored as homozygous PubMed: Zschocke 1999 - - Germline - - - - - DNA DGGE, PCR, SEQ - - PKU patient PubMed: Zschocke 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - Mediterranean;Germany-E - - - - 1 Johan den Dunnen
+/. - c.1169A>G r.(?) p.(Glu390Gly) Unknown - pathogenic (recessive) g.103237454T>C g.102843676T>C - - PAH_000150 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - PKU - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
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