Full data view for gene PAH

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

32 entries on 1 page. Showing entries 1 - 32.
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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.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic g.103246654G>A g.102852876G>A PAH(NM_000277.3):c.781C>T (p.R261*) - PAH_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat83 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.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat84 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.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat85 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. 7 c.781C>T r.(?) p.(Arg261*) Paternal (confirmed) ACMG pathogenic (recessive) g.103246654G>A - - - PAH_000159 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-80 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.781C>T r.(?) p.(Arg261*) Paternal (confirmed) ACMG pathogenic (recessive) g.103246654G>A - - - PAH_000159 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-80 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Liang 2014 - - Germline - 1/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 7 c.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic g.103246654G>A g.102852876G>A - - PAH_000159 combination of alleles not reported PubMed: Yan 2019 - - Germline - 7/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 7 Johan den Dunnen
+/. 7 c.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic g.103246654G>A g.102852876G>A - - PAH_000159 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.781C>T r.(?) p.(Arg261*) Both (homozygous) - pathogenic (recessive) g.103246654G>A - - - PAH_000159 - PubMed: Trujillano 2014 - rs5030850 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat18 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat74 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat165 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat198 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat322 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat325 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat417 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Both (homozygous) - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat419 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat63 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261* - PAH_000159 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat344 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261X - PAH_000159 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic (recessive) g.103246654G>A g.102852876G>A R261X - PAH_000159 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 1/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic (recessive) g.103246654G>A g.102852876G>A R361X - PAH_000159 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 3/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 3 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261X - PAH_000159 - PubMed: Perez-Duenas 2004 - - Germline - 7/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #1 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261X - PAH_000159 - PubMed: Perez-Duenas 2004 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.781C>T r.(?) p.(Arg261Ter) Parent #2 - pathogenic (recessive) g.103246654G>A g.102852876G>A R261X - PAH_000159 - PubMed: Perez-Duenas 2004 - - Germline - 44/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.781C>T r.(?) p.(Arg261Ter) Unknown - pathogenic (recessive) g.103246654G>A g.102852876G>A - - PAH_000159 - PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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