Full data view for gene PAH

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. _1_1 c.-473_-408{0} r.0 p.0 Unknown - pathogenic (recessive) g.103311317_103315075del g.102917539_102921297del -4171_-405del, -4173_–407del - PAH_000262 - PubMed: Hillert 2020, data copied from the BIOPKU database - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1 c.-473_-408{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.103311317_103315075del g.102917539_102921297del -4173_–407del (c.-4166_-408del) - PAH_000262 - PubMed: Chen 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HPA FamWPatBF PubMed: Chen 2002 2-generation family, 1 affected, unaffected heterozygous carrier mother - - Taiwan - - - - - 1 Johan den Dunnen
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