Full data view for gene PAH

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

75 entries on 1 page. Showing entries 1 - 75.
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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.143T>C r.(?) p.(Leu48Ser) Unknown - pathogenic g.103306594A>G g.102912816A>G PAH(NM_000277.3):c.143T>C (p.(Leu48Ser), p.L48S) - PAH_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F1C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F6C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F19C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F21C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F22C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F26C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F27C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F28C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F32C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F42C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F53C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F57C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F68C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F81C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat26 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 5/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 5/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 5/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 5/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 5/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G - - - PAH_000136 unknown variant 2nd chromosome PubMed: Trujillano 2014 - rs5030841 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G - - - PAH_000136 - PubMed: Trujillano 2014 - rs5030841 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G - - - PAH_000136 - PubMed: Trujillano 2014 - rs5030841 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Groselj 2012 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat41 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat103 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat235 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat245 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat256 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat281 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat316 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat344 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat383 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat421 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat523 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat526 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat578 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Both (homozygous) - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat594 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, MLPA, SEQ - - PKU Pat621 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, MLPA, SEQ - - PKU Pat624 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat178 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat271 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat365 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat459 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat537 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat577 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Unknown - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 18/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 17 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Hennermann 2000 - - Germline - 18/580 chromosomes PKU - - - DNA SEQ - - PKU Pat60 PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Perez-Duenas 2004 - - Germline - 4/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Perez-Duenas 2004 - - Germline - 3/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G L48S - PAH_000136 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 - 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
+/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 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
+/. 2 c.143T>C r.(?) p.(Leu48Ser) Unknown - pathogenic (recessive) g.103306594A>G g.102912816A>G - - PAH_000136 allelic phenotype value 2.1, variant associated with classic-mild PKU PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143T>C r.(?) p.(Leu48Ser) Unknown - pathogenic g.103306594A>G - PAH(NM_000277.3):c.143T>C (p.(Leu48Ser), p.L48S) - PAH_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.143T>C r.(?) p.(Leu48Ser) Parent #1 - likely pathogenic g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat121 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.143T>C r.(?) p.(Leu48Ser) Parent #2 - likely pathogenic g.103306594A>G g.102912816A>G - - PAH_000136 - 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.143T>C r.(?) p.(Leu48Ser) Parent #2 - likely pathogenic g.103306594A>G g.102912816A>G - - PAH_000136 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat77 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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