ClinVar

NM_000277.3(PAH):c.59A>T (p.Gln20Leu)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102917072 (on Assembly GRCh38)
• Chr12: 103310850 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.59A>T (p.Gln20Leu)

HGVS:

• NC_000012.12:g.102917072T>A
• NG_008690.2:g.46339A>T
• NM_000277.3:c.59A>TMANE SELECT
• NM_001354304.2:c.59A>T
• NP_000268.1:p.Gln20Leu
• NP_001341233.1:p.Gln20Leu
• NC_000012.11:g.103310850T>A
• NM_000277.1:c.59A>T
• NM_000277.2(PAH):c.59A>T
• P00439:p.Gln20Leu

This HGVS expression did not pass validation

Protein change:

Q20L

Links:

UniProtKB: P00439#VAR_009239; dbSNP: rs199475662

NCBI 1000 Genomes Browser:

rs199475662

Molecular consequence:

• NM_000277.3:c.59A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.59A>T - missense variant - [Sequence Ontology: SO:0001583]