AVDB

Gene PAH Details

It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.

Gene: PAH

Disorder: Hyperphenylalaninemia

Allele Frequency: 0.0167504

Carrier Rate: 0.0329397

Max At-Risk Couples rate: 0.00108502

The table below lists all clinically relevant variants identified in the PAH gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
18 103306564 PAH NM_000277.3:c.168+5G>C p.? 15 0.006281%
80 103248932 PAH NM_000277.3:c.688G>A NP_000268.1:p.Val230Ile 4 0.001675%
109 103234285 PAH NM_000277.3:c.1208C>T NP_000268.1:p.Ala403Val 3 0.001256%
110 103237484 PAH NM_000277.3:c.1139C>T NP_000268.1:p.Thr380Met 3 0.001256%
182 103234270 PAH NM_000277.3:c.1223G>A p.Arg408Gln 2 0.000838%
183 103238211 PAH NM_000277.3:c.970-2A>G 2 0.000838%
184 103245487 PAH NM_000277.3:c.890G>A NP_000268.1:p.Arg297His 2 0.000838%
185 103245488 PAH NM_000277.3:c.889C>T NP_000268.1:p.Arg297Cys 2 0.000838%
411 103234242 PAH NM_000277.3:c.1251_1252insG NP_000268.1:p.Thr418Aspfs*5 1 0.000419%
412 103237423 PAH NM_000277.3:c.1199+1G>C 1 0.000419%
413 103245479 PAH NM_000277.3:c.898G>T NP_000268.1:p.Ala300Ser 1 0.000419%
414 103246597 PAH NM_000277.3:c.838G>A NP_000268.1:p.Glu280Lys 1 0.000419%
415 103271235 PAH NM_000277.3:c.441+5G>T 1 0.000419%
416 103288534 PAH NM_000277.3:c.331C>T NP_000268.1:p.Arg111Ter 1 0.000419%
417 103306580 PAH NM_000277.3:c.157C>T NP_000268.1:p.Arg53Cys 1 0.000419%