Full data view for gene PAH

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
?/? 4i c.441+1G>A r.spl? p.? Parent #1 - pathogenic g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Sterl 2013 - - Unknown yes - - 0 - DNA PCR, SEQ - - PKU - PubMed: Sterl 2013 - - - Austria - - 0 - - 1 Johan den Dunnen
+/. - c.441+1G>A r.spl? p.? Unknown - pathogenic g.103271239C>T g.102877461C>T PAH(NM_000277.3):c.441+1G>A - PAH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.441+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Shirzadeh 2018 - - Germline - - - 0 - DNA ARMS, SEQ - - PKU Pat13 PubMed: Shirzadeh 2018 - - - Iran - - 0 - - 1 Johan den Dunnen
+/. - c.441+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Shirzadeh 2018 - - Germline - - - 0 - DNA ARMS, SEQ - - PKU Pat75 PubMed: Shirzadeh 2018 - - - Iran - - 0 - - 1 Johan den Dunnen
+/. - c.441+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103271239C>T g.102877461C>T - - PAH_000009 - PubMed: Shirzadeh 2018 - - Germline - - - 0 - DNA ARMS, SEQ - - PKU Pat475 PubMed: Shirzadeh 2018 - - - Iran - - 0 - - 1 Johan den Dunnen
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