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     
+/. - c.842+1G>A r.spl? p.? Unknown - pathogenic g.103246592C>T g.102852814C>T PAH(NM_000277.3):c.842+1G>A - PAH_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.842+1G>A r.spl? p.? Unknown - pathogenic g.103246592C>T g.102852814C>T PAH(NM_000277.3):c.842+1G>A - PAH_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.842+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat95 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.842+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat96 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Guanajuato - - - - 1 Liliana Fernández
+/. - c.842+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat97 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Sonora - - - - 1 Liliana Fernández
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat77 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Tabasco - - - - 1 Liliana Fernández
+/. 7i c.842+1G>A r.spl p.? Unknown - pathogenic g.103246592C>T g.102852814C>T IVS7+1G>A - PAH_000068 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.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T - - - PAH_000068 - PubMed: Trujillano 2014 - rs5030852 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7i c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T IVS7+1G>A - PAH_000068 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T IVS7nt1 - PAH_000068 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.(?) p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T - - PAH_000068 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat18 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.842+1G>A r.spl p.? Unknown - pathogenic (recessive) g.103246592C>T g.102852814C>T IVS7+1G>A - PAH_000068 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.842+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103246592C>T g.102852814C>T IVS7nt1G-A - PAH_000068 - PubMed: Perez-Duenas 2004 - - Germline - 44/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7i c.842+1G>A r.spl p.? Unknown - pathogenic (recessive) g.103246592C>T g.102852814C>T IVS7+1G>A - PAH_000068 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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