Full data view for gene PAH

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

74 entries on 1 page. Showing entries 1 - 74.
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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.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic g.103245479C>A g.102851701C>A PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S) - PAH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic g.103245479C>A g.102851701C>A PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S) - PAH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic g.103245479C>A g.102851701C>A - - PAH_000061 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030853 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat98 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F5C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F13C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 1/214 case chromosomes - - - DNA DHPLC, MLPA, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Both (homozygous) - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A - - - PAH_000061 - PubMed: Trujillano 2014 - rs5030853 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 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.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Ferreira 2021 - - Germline - 8/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat50 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat215 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat232 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat289 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Both (homozygous) - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat424 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat429 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Both (homozygous) - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat461 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat478 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat500 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat537 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Both (homozygous) - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat559 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat566 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat577 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat607 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat229 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat245 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat267 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat309 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat312 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat322 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat369 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat403 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat432 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat433 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat513 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat527 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat603 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat610 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #2 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 - PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat48 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A A300S - PAH_000061 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. 8 c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic (recessive) g.103245479C>A g.102851701C>A - - PAH_000061 allelic phenotype value 9.2, variant associated with mild HPA PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic g.103245479C>A - PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S) - PAH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic g.103245479C>A - PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S) - PAH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.898G>T r.(?) p.(Ala300Ser) Unknown - pathogenic g.103245479C>A - PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S) - PAH_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - likely pathogenic g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat67 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.898G>T r.(?) p.(Ala300Ser) Parent #1 - likely pathogenic g.103245479C>A g.102851701C>A - - PAH_000061 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat123 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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