Full data view for gene PAH

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

59 entries on 1 page. Showing entries 1 - 59.
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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.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic g.103238134A>G g.102844356A>G PAH(NM_000277.3):c.1045T>C (p.S349P) - PAH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat105 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - 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.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat107 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guerrero - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat108 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat109 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat110 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat58 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat60 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat65 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat86 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Nuevo León - - - - 1 Liliana Fernández
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat117 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. 10 c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic g.103238134A>G g.102844356A>G Ser349Ala - PAH_000044 combination of alleles not reported PubMed: Yan 2019 - - Germline - 2/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 2 Johan den Dunnen
+/. 10 c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic g.103238134A>G g.102844356A>G Ser349Ala - PAH_000044 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 10 c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic g.103238134A>G g.102844356A>G Ser349Ala - PAH_000044 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 10 c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 1/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D4 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G - - - PAH_000044 - PubMed: Trujillano 2014 - rs62508646 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 7/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 2/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 4/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat6 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat21 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Both (homozygous) - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 7 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Bueno 2013 - - Germline - 24/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat30 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 2 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 9/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #1 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 8/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 221/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - pathogenic (recessive) g.103238134A>G g.102844356A>G S349P - PAH_000044 - PubMed: Perez-Duenas 2004 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 10 c.1045T>C r.(?) p.(Ser349Pro) Unknown - pathogenic (recessive) g.103238134A>G g.102844356A>G - - PAH_000044 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1045T>C r.(?) p.(Ser349Pro) Parent #2 - likely pathogenic g.103238134A>G g.102844356A>G - - PAH_000044 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat78 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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