Full data view for gene PAH

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

83 entries on 1 page. Showing entries 1 - 83.
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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.441+5G>T r.spl? p.? Unknown - likely pathogenic g.103271235C>A g.102877457C>A PAH(NM_000277.3):c.441+5G>T - PAH_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat34 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Tamaulipas - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat35 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Coahuila - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat60 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - 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.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - 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.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat63 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.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat64 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - 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.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - 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.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, 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.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat47 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat95 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Edo Mex - - - - 1 Liliana Fernández
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F78C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 4i c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5G>T - PAH_000144 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 1/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A - - - PAH_000144 - PubMed: Trujillano 2014 - rs62507321 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 4i c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5G>T - PAH_000144 - PubMed: Ferreira 2021 - - Germline - 2/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat57 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat69 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat81 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat93 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat96 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat137 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat254 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat268 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat315 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat326 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat343 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat371 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat381 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat423 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat445 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat481 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat485 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat505 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat521 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat604 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat617 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat625 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat212 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat287 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat310 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat425 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat517 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat525 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat531 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat10 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat50 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat7 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat9 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat12 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat18 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 no variant 2nd chromosome PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, MLPA, SEQ - - PKU Pat39 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat42 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat47 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat52 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Unknown - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 4 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat24 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #2 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4+5g>t - PAH_000144 - PubMed: Bueno 2013 - - Germline - 17/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat34 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl p.? Parent #1 - pathogenic (recessive) g.103271235C>A g.102877457C>A IVS4nt5G>T - PAH_000144 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
?/. 4i c.441+5G>T r.spl? p.? Unknown - VUS g.103271235C>A g.102877457C>A IVS4+5G>T - PAH_000144 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.441+5G>T r.spl p.? Parent #1 - likely pathogenic g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat76 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.441+5G>T r.spl p.? Parent #2 - likely pathogenic g.103271235C>A g.102877457C>A - - PAH_000144 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat79 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.441+5G>T r.spl? p.? Unknown - pathogenic g.103271235C>A - PAH(NM_000277.3):c.441+5G>T - PAH_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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