Full data view for gene PAH

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

88 entries on 1 page. Showing entries 1 - 88.
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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.168+5G>C r.spl? p.? Unknown - pathogenic g.103306564C>G g.102912786C>G PAH(NM_000277.3):c.168+5G>C - PAH_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat51 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+?/. - c.168+5G>C r.spl? p.? Unknown - likely pathogenic g.103306564C>G - PAH(NM_000277.3):c.168+5G>C - PAH_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F7C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F20C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F44C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 2i c.168+5G>C r.spl p.? Unknown - pathogenic g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 combination of alleles not reported PubMed: Yan 2019 - - Germline - 3/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 3 Johan den Dunnen
+/. 2i c.168+5G>C r.spl p.? Unknown - pathogenic g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 2i c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 - 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.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 2i c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 2i c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 - PubMed: Ferreira 2021 - - Germline - 1/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat5 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat6 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat19 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat26 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat34 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat38 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat60 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat91 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat111 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat128 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat132 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat160 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat163 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat164 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat186 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat188 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat189 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat203 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat204 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat207 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat208 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat210 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat216 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat231 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat243 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat246 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat252 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat262 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat317 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat332 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat334 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat335 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat348 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat379 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat380 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat384 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat396 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat400 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat416 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat441 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat448 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat463 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat489 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat498 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat511 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat519 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat533 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat535 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat538 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat548 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat549 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat550 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat552 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat557 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat561 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat562 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat569 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat576 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat588 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat23 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat85 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat109 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat236 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU, SMA Pat355 PubMed: Shirzadeh 2018 MLPA shows total deletion of SMN1 and NAIP, 2 copies of SMN2, confirming diagnosis severe SMA, contributing to infant’s death M - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat362 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat364 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat413 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat415 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat607 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #2 - pathogenic (recessive) g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat622 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.168+5G>C r.spl p.? Parent #1 - pathogenic (recessive) g.103306564C>G g.102912786C>G IVS2nt5G>C - PAH_000132 - PubMed: Perez-Duenas 2004 - - Germline - 8/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
?/. 2i c.168+5G>C r.spl? p.? Unknown - VUS g.103306564C>G g.102912786C>G IVS2+5G>C - PAH_000132 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.168+5G>C r.spl p.? Parent #1 - likely pathogenic g.103306564C>G g.102912786C>G - - PAH_000132 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat79 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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