Full data view for gene PAH

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

36 entries on 1 page. Showing entries 1 - 36.
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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.60+5G>T r.spl? p.? Unknown - pathogenic g.103310844C>A g.102917066C>A PAH(NM_000277.3):c.60+5G>T - PAH_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat1 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat2 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.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat3 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat4 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat5 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat6 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat7 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat8 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat9 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat10 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat11 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat12 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat13 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Aguascalientes - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat14 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat15 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat16 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California Sur - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat17 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat18 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat19 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat20 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Yucatan - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat21 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat22 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat23 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat24 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat25 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat26 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A IVS1+5g>t - PAH_000139 - PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat15 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A IVS1+5g>t - PAH_000139 - PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat38 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.60+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103310844C>A g.102917066C>A IVS1+5g>t - PAH_000139 - PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 family, 2 affected sibs - - Spain Andalusia - - - - 2 Johan den Dunnen
+/. - c.60+5G>T r.spl p.? Unknown - pathogenic (recessive) g.103310844C>A g.102917066C>A IVS1+5g>t - PAH_000139 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 4/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.60+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103310844C>A g.102917066C>A IVS1nt5g>t - PAH_000139 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
?/. 1i c.60+5G>T r.spl? p.? Unknown - VUS g.103310844C>A g.102917066C>A IVS1+5G>T - PAH_000139 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.60+5G>T r.spl p.? Parent #1 - likely pathogenic g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat77 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.60+5G>T r.spl p.? Parent #1 - likely pathogenic g.103310844C>A g.102917066C>A - - PAH_000139 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat78 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.60+5G>T r.spl? p.? Unknown - pathogenic g.103310844C>A - PAH(NM_000277.3):c.60+5G>T - PAH_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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