Full data view for gene PAH

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

20 entries on 1 page. Showing entries 1 - 20.
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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.533A>G r.(?) p.(Glu178Gly) Unknown - pathogenic g.103249087T>C g.102855309T>C PAH(NM_000277.1):c.533A>G (p.E178G), PAH(NM_000277.3):c.533A>G (p.E178G) - PAH_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533A>G r.(?) p.(Glu178Gly) Unknown - pathogenic g.103249087T>C g.102855309T>C PAH(NM_000277.1):c.533A>G (p.E178G), PAH(NM_000277.3):c.533A>G (p.E178G) - PAH_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat68 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - 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.533A>G r.(?) p.(Glu178Gly) Both (homozygous) - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat70 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat71 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat53 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Sonora - - - - 1 Liliana Fernández
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F15C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F4C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F9C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F33C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 6 c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - 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.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C - - - PAH_000107 - PubMed: Trujillano 2014 - rs77958223 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #1 - pathogenic (recessive) g.103249087T>C g.102855309T>C E178G - PAH_000107 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat590 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C E178G - PAH_000107 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat504 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Unknown - pathogenic (recessive) g.103249087T>C g.102855309T>C E178G - PAH_000107 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - pathogenic (recessive) g.103249087T>C g.102855309T>C E178G - PAH_000107 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.533A>G r.(?) p.(Glu178Gly) Unknown - pathogenic (recessive) g.103249087T>C g.102855309T>C - - PAH_000107 allelic phenotype value 7.4, variant associated with mild PKU-mild HPA PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.533A>G r.(?) p.(Glu178Gly) Parent #2 - likely pathogenic g.103249087T>C g.102855309T>C - - PAH_000107 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat63 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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