ClinVar

NM_000277.3(PAH):c.60G>C (p.Gln20His)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102917071 (on Assembly GRCh38)
• Chr12: 103310849 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.60G>C (p.Gln20His)

HGVS:

• NC_000012.12:g.102917071C>G
• NG_008690.2:g.46340G>C
• NM_000277.3:c.60G>CMANE SELECT
• NM_001354304.2:c.60G>C
• NP_000268.1:p.Gln20His
• NP_001341233.1:p.Gln20His
• NC_000012.11:g.103310849C>G
• NM_000277.1:c.60G>C
• NM_000277.2(PAH):c.60G>C
• p.Gln20His

This HGVS expression did not pass validation

Protein change:

Q20H

Links:

dbSNP: rs199475688

NCBI 1000 Genomes Browser:

rs199475688

Molecular consequence:

• NM_000277.3:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.60G>C - missense variant - [Sequence Ontology: SO:0001583]