Full data view for gene PAH

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

20 entries on 1 page. Showing entries 1 - 20.
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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     
+/. 2 c.136G>A r.(?) p.(Gly46Ser) Parent #1 - pathogenic (recessive) g.103306601C>T g.102912823C>T - - PAH_000464 - PubMed: Ferreira 2021 - - Germline - 2/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Gly46Ser) Parent #1 - pathogenic (recessive) g.103306601C>T g.102912823C>T - - PAH_000464 - PubMed: Ferreira 2021 - - Germline - 2/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #1 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #1 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Both (homozygous) - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #1 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat33 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Parent #2 - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 - PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat45 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Gly46Ser) Unknown - pathogenic (recessive) g.103306601C>T g.102912823C>T G46S - PAH_000464 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Gly46Ser) Unknown - pathogenic (recessive) g.103306601C>T g.102912823C>T - - PAH_000464 allelic phenotype value 1.8, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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