Full data view for gene PAH

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

28 entries on 1 page. Showing entries 1 - 28.
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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.688G>A r.(?) p.(Val230Ile) Unknown - VUS g.103248932C>T g.102855154C>T - - PAH_000006 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic g.103248932C>T g.102855154C>T PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I) - PAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic g.103248932C>T g.102855154C>T PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I) - PAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.688G>A r.(?) p.(Val230Ile) Unknown - likely pathogenic g.103248932C>T g.102855154C>T PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I) - PAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic g.103248932C>T g.102855154C>T PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I) - PAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - likely pathogenic g.103248932C>T g.102855154C>T - - PAH_000006 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62516152 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T - - PAH_000006 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat74 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Veracruz - - - - 1 Liliana Fernández
+/. 6 c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic g.103248932C>T g.102855154C>T - - PAH_000006 combination of alleles not reported PubMed: Yan 2019 - - Germline - 3/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 3 Johan den Dunnen
+/. 3 c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic g.103248932C>T g.102855154C>T 280A>G/688G>A - PAH_000006 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T - - - PAH_000006 - PubMed: Trujillano 2014 - rs62516152 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T - - - PAH_000006 - PubMed: Trujillano 2014 - rs62516152 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T - - - PAH_000006 - PubMed: Trujillano 2014 - rs62516152 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #2 - pathogenic (recessive) g.103248932C>T - - - PAH_000006 - PubMed: Trujillano 2014 - rs62516152 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #2 - pathogenic (recessive) g.103248932C>T - - - PAH_000006 - PubMed: Trujillano 2014 - rs62516152 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T - - PAH_000006 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat109 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat233 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 unknown variant 2nd chromosome PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat284 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat587 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #1 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat609 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Both (homozygous) - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat618 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #2 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat280 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Parent #2 - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat377 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 1/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic (recessive) g.103248932C>T g.102855154C>T V230I - PAH_000006 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic (recessive) g.103248932C>T g.102855154C>T - - PAH_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic (recessive) g.103248932C>T g.102855154C>T - - PAH_000006 allelic phenotype value 9.8, variant associated with mild HPA PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688G>A r.(?) p.(Val230Ile) Unknown - pathogenic g.103248932C>T - PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I) - PAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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