Full data view for gene PAH

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

37 entries on 1 page. Showing entries 1 - 37.
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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.155del r.(?) p.(Leu52CysfsTer9) Parent #1 - pathogenic (recessive) g.103306583del g.102912805del 155delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.155del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.155del r.(?) p.(Leu52CysfsTer9) Unknown - pathogenic (recessive) g.103306583del g.102912805del - - PAH_000215 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del - - PAH_000215 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat49 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Durango - - - - 1 Liliana Fernández
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del - - PAH_000215 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat62 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F10C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 6/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55Leufs*6) Parent #1 - pathogenic (recessive) g.103306574del - - - PAH_000215 - PubMed: Trujillano 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55Leufs*6) Parent #1 - pathogenic (recessive) g.103306574del - - - PAH_000215 - PubMed: Trujillano 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55Leufs*6) Parent #1 - pathogenic (recessive) g.103306574del - - - PAH_000215 - PubMed: Trujillano 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - PubMed: Ferreira 2021 - - Germline - 4/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat236 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Both (homozygous) - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat346 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #1 - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat462 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat131 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat243 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del F55Lfs*6 - PAH_000215 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat523 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Maternal (confirmed) - pathogenic (recessive) g.103306574del g.102912796del F55fs - PAH_000215 - PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ - - PKU - PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Unknown - pathogenic (recessive) g.103306574del g.102912796del 165delT (F55fs) - PAH_000215 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.165del r.(?) p.(Phe55LeufsTer6) Unknown - pathogenic (recessive) g.103306574del g.102912796del F55fsdelT - PAH_000215 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 2 Johan den Dunnen
+/. - c.165del r.(?) p.(Phe55LeufsTer6) Parent #2 - pathogenic (recessive) g.103306574del g.102912796del 165delT - PAH_000215 - 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
+/. 2 c.165del r.(?) p.(Phe55LeufsTer6) Unknown - pathogenic (recessive) g.103306574del g.102912796del - - PAH_000215 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
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