ClinVar

NM_000277.3(PAH):c.365C>A (p.Pro122Gln)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102877538 (on Assembly GRCh38)
• Chr12: 103271316 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.365C>A (p.Pro122Gln)

HGVS:

• NC_000012.12:g.102877538G>T
• NG_008690.2:g.85873C>A
• NM_000277.3:c.365C>AMANE SELECT
• NM_001354304.2:c.365C>A
• NP_000268.1:p.Pro122Gln
• NP_001341233.1:p.Pro122Gln
• NC_000012.11:g.103271316G>T
• NM_000277.1:c.365C>A

This HGVS expression did not pass validation

Protein change:

P122Q

Links:

dbSNP: rs199475622

NCBI 1000 Genomes Browser:

rs199475622

Molecular consequence:

• NM_000277.3:c.365C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.365C>A - missense variant - [Sequence Ontology: SO:0001583]