Full data view for gene PAH

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

21 entries on 1 page. Showing entries 1 - 21.
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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.722G>A r.(?) p.(Arg241His) Unknown - pathogenic g.103246713C>T g.102852935C>T PAH(NM_000277.3):c.722G>A (p.R241H) - PAH_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat76 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - 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
+/. - c.722G>A r.(?) p.(Arg241His) Both (homozygous) - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat78 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat43 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - - - - 1 Liliana Fernández
+/. - c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat81 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Both (homozygous) - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Both (homozygous) - pathogenic (recessive) g.103246713C>T g.102852935C>T R241H - PAH_000090 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat122 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T R241H - PAH_000090 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat57 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Unknown - pathogenic (recessive) g.103246713C>T g.102852935C>T R241H - PAH_000090 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #1 - pathogenic (recessive) g.103246713C>T g.102852935C>T R241Q - PAH_000090 no variant 2nd chromosome PubMed: Perez-Duenas 2004 - - Germline - 19/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T R241H - PAH_000090 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Parent #2 - pathogenic (recessive) g.103246713C>T g.102852935C>T R241H - PAH_000090 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.722G>A r.(?) p.(Arg241His) Unknown - pathogenic (recessive) g.103246713C>T g.102852935C>T - - PAH_000090 allelic phenotype value 5.3, variant associated with mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.722G>A r.(?) p.(Arg241His) Unknown - pathogenic g.103246713C>T g.102852935C>T - - PAH_000090 - PubMed: Wang 2019 - - Germline - 1/24 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. - c.722G>A r.(?) p.(Arg241His) Unknown - pathogenic g.103246713C>T g.102852935C>T - - PAH_000090 - 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
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