Full data view for gene PAH

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

35 entries on 1 page. Showing entries 1 - 35.
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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.1055del r.(?) p.(Gly352Valfs*48) Unknown - VUS g.103238125del g.102844347del - - PAH_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Unknown - pathogenic g.103238125del g.102844347del PAH(NM_000277.1):c.1055delG (p.G352Vfs*48) - PAH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del - - PAH_000002 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat111 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del - - PAH_000002 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat112 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Hidalgo - - - - 1 Liliana Fernández
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del - - PAH_000002 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat61 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1055del r.(?) p.(Gly352Valfs*48) Parent #1 - pathogenic (recessive) g.103238125del - - - PAH_000002 - PubMed: Trujillano 2014 - rs62516094 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352Valfs*48) Both (homozygous) - pathogenic (recessive) g.103238125del - - - PAH_000002 - PubMed: Trujillano 2014 - rs62516094 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352Valfs*48) Parent #1 - pathogenic (recessive) g.103238125del - - - PAH_000002 - PubMed: Trujillano 2014 - rs62516094 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352Valfs*48) Parent #1 - pathogenic (recessive) g.103238125del - - - PAH_000002 - PubMed: Groselj 2012 - rs62516094 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 11/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 26/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 3/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Both (homozygous) - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 3/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 10 c.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del 1055delG - PAH_000002 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1055delG (G352fs) - PAH_000002 - PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat11 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del 1056delG (G352fs) - PAH_000002 - PubMed: Bueno 2013 - - Germline - 2/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat40 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352Valfs*48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del G352fsdelG - PAH_000002 no variant 2nd chromosome PubMed: Benit 1994 - - Germline - - - - - DNA SEQ - - PKU Pat2 PubMed: Benit 1994 - - no France Africa-N - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Unknown - pathogenic (recessive) g.103238125del g.102844347del G352fsdelG - PAH_000002 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.1055del r.(?) p.(Gly352ValfsTer48) Parent #1 - pathogenic (recessive) g.103238125del g.102844347del G352fsdelG - PAH_000002 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1055del r.(?) p.(Gly352ValfsTer48) Parent #2 - pathogenic (recessive) g.103238125del g.102844347del G352fsdelG - PAH_000002 - PubMed: Perez-Duenas 2004 - - Germline - 18/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. 10 c.1055del r.(?) p.(Gly352ValfsTer48) Unknown - pathogenic (recessive) g.103238125del g.102844347del c.1055del - PAH_000002 allelic phenotype value 0, variant associated with classic PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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