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.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T g.102852819C>T PAH(NM_000277.3):c.838G>A (p.E280K) - PAH_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T g.102852819C>T PAH(NM_000277.3):c.838G>A (p.E280K) - PAH_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T - PAH(NM_000277.3):c.838G>A (p.E280K) - PAH_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat26 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat93 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.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat94 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Colima - - - - 1 Liliana Fernández
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Maternal (confirmed) ACMG pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-68 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.838G>A r.(?) p.(Glu280Lys) Paternal (confirmed) ACMG pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-87 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T - PAH(NM_000277.3):c.838G>A (p.E280K) - PAH_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T g.102852819C>T - - PAH_000157 combination of alleles not reported PubMed: Yan 2019 - - Germline - 4/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 4 Johan den Dunnen
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T g.102852819C>T - - PAH_000157 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
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic g.103246597C>T g.102852819C>T - - PAH_000157 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
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - 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.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Trujillano 2014 - rs62508698 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S13 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Trujillano 2014 - rs62508698 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S14 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Trujillano 2014 - rs62508698 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Trujillano 2014 - rs62508698 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T - - - PAH_000157 - PubMed: Trujillano 2014 - rs62508698 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 combination of variants not reported PubMed: Yu 2014 - - Germline - 1/122 cases PKU - - - DNA SSCA, SEQ - - PKU - PubMed: Yu 2014 - - - China - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat25 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat31 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat80 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat135 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat136 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat194 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #1 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat196 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat307 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat420 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Both (homozygous) - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat486 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat98 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat296 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat342 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat359 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Parent #2 - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 3/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic (recessive) g.103246597C>T g.102852819C>T E280K - PAH_000157 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 2 Johan den Dunnen
+/. 7 c.838G>A r.(?) p.(Glu280Lys) Unknown - pathogenic (recessive) g.103246597C>T g.102852819C>T - - PAH_000157 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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