Full data view for gene PAH

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

44 entries on 1 page. Showing entries 1 - 44.
Legend   How to query  

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.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic g.103238137G>C g.102844359G>C PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V) - PAH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic g.103238137G>C g.102844359G>C PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V) - PAH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat103 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Morelos - - - - 1 Liliana Fernández
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat104 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Tabasco - - - - 1 Liliana Fernández
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat44 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic g.103238137G>C - PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V) - PAH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C - - - PAH_000046 no variant 2nd chromosome PubMed: Trujillano 2014 - rs62516092 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C - - - PAH_000046 - PubMed: Trujillano 2014 - rs62516092 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C - - - PAH_000046 - PubMed: Trujillano 2014 - rs62516092 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 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.1042C>G r.(?) p.(Leu348Val) Both (homozygous) - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 6/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Ferreira 2021 - - Germline - 11/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C L348V - PAH_000046 - PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat37 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic (recessive) g.103238137G>C g.102844359G>C L348V - PAH_000046 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. _1 c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic (recessive) g.103238137G>C g.102844359G>C L348V - PAH_000046 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 3 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C L348V - PAH_000046 - PubMed: Hennermann 2000 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU PatSM PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #2 - pathogenic (recessive) g.103238137G>C g.102844359G>C L348V - PAH_000046 - PubMed: Perez-Duenas 2004 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 10 c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 allelic phenotype value 1.6, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1042C>G r.(?) p.(Leu348Val) Parent #1 - pathogenic (recessive) g.103238137G>C g.102844359G>C - - PAH_000046 - PubMed: Lord 2024 ClinVar-8582 - Germline - - - - - DNA SEQ, SEQ-NG - WGS ? PatPAH PubMed: Lord 2024 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1042C>G r.(?) p.(Leu348Val) Unknown - pathogenic g.103238137G>C - PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V) - PAH_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.