Full data view for gene PAH

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

55 entries on 1 page. Showing entries 1 - 55.
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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.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic g.103246621C>A g.102852843C>A PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*) - PAH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic g.103246621C>A g.102852843C>A PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*) - PAH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic g.103246621C>A g.102852843C>A PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*) - PAH_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814G>T r.(?) p.(Gly272*) Parent #2 - pathogenic (recessive) g.103246621C>A - - - PAH_000075 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M005 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat91 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Both (homozygous) - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Both (homozygous) - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Both (homozygous) - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Both (homozygous) - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 3/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #2 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 - PubMed: Bueno 2013 - - Germline - 3/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat29 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 8/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 8 Johan den Dunnen
+/. - c.814G>T r.(?) p.(Gly272Ter) Parent #1 - pathogenic (recessive) g.103246621C>A g.102852843C>A G272X - PAH_000075 no variant 2nd chromosome PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.814G>T r.(?) p.(Gly272Ter) Unknown - pathogenic (recessive) g.103246621C>A g.102852843C>A - - PAH_000075 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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