Full data view for gene PAH

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

50 entries on 1 page. Showing entries 1 - 50.
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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.1223G>A r.(?) p.(Arg408Gln) Unknown - VUS g.103234270C>T g.102840492C>T - - PAH_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1223G>A r.(?) p.(Arg408Gln) Unknown - pathogenic g.103234270C>T g.102840492C>T PAH(NM_000277.3):c.1223G>A (p.R408Q) - PAH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic g.103234270C>T g.102840492C>T - - PAH_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030859 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
+/. 12 c.1223G>A r.(?) p.(Arg408Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103234270C>T - - - PAH_000005 - - - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-33 - - M no China - - - - - 1 Xiaomei Luo
+/. 12 c.1223G>A r.(?) p.(Arg408Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103234270C>T - - - PAH_000005 - - - - Germline yes - - - - DNA PCR blood - PKU HPA-35 - - F no China - - - - - 1 Xiaomei Luo
+/. 12 c.1223G>A r.(?) p.(Arg408Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103234270C>T - - - PAH_000005 - - - - Germline ? - - - - DNA SEQ-NG blood - PKU HPA-38 - - M no China - - - - - 1 Xiaomei Luo
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Liang 2014 - - Germline - 17/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 12 c.1223G>A r.(?) p.(Arg408Gln) Unknown - pathogenic g.103234270C>T g.102840492C>T - - PAH_000005 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
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T - - - PAH_000005 - PubMed: Trujillano 2014 - rs5030859 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T - - - PAH_000005 no variant 2nd chromosome PubMed: Trujillano 2014 - rs5030859 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Groselj 2012 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat336 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Both (homozygous) - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat586 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #1 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Parent #2 - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.1223G>A r.(?) p.(Arg408Gln) Unknown - pathogenic (recessive) g.103234270C>T g.102840492C>T R408Q - PAH_000005 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. 12 c.1223G>A r.(?) p.(Arg408Gln) Unknown - pathogenic (recessive) g.103234270C>T g.102840492C>T - - PAH_000005 allelic phenotype value 5.2, variant associated with mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Not applicable - - - - - - - - - - - - - - - - - - - - - - -
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