Full data view for gene PAH

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

56 entries on 1 page. Showing entries 1 - 56.
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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.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat25 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat74 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Veracruz - - - - 1 Liliana Fernández
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat116 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Oaxaca - - - - 1 Liliana Fernández
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Paternal (confirmed) ACMG pathogenic (recessive) g.103246681G>A - - - PAH_000208 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-48 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F40C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F34C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 2/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 2/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A - - - PAH_000208 - PubMed: Groselj 2012 - rs5030847 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A - - - PAH_000208 - PubMed: Trujillano 2014 - rs5030847 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Ferreira 2021 - - Germline - 18/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat22 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat71 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat123 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat131 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat133 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat150 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat157 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat312 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat360 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat361 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat413 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat480 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Both (homozygous) - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat545 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat1 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat10 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #2 - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat41 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (recessive) g.103246681G>A g.102852903G>A R252W - PAH_000208 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 5 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (recessive) g.103246681G>A g.102852903G>A - - PAH_000208 combination alleles not determined PubMed: Reiner 2022 - - De novo - 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
?/. 7 c.754C>T r.(?) p.(Arg252Trp) Unknown - VUS g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic g.103246681G>A g.102852903G>A - - PAH_000208 - PubMed: Wang 2019 - - Germline - 1/36 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic g.103246681G>A - - - PAH_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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