ClinVar

NM_000277.3(PAH):c.1030G>C (p.Gly344Arg)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102844371 (on Assembly GRCh38)
• Chr12: 103238149 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.1030G>C (p.Gly344Arg)

HGVS:

• NC_000012.12:g.102844371C>G
• NG_008690.2:g.119040G>C
• NM_000277.3:c.1030G>CMANE SELECT
• NM_001354304.2:c.1030G>C
• NP_000268.1:p.Gly344Arg
• NP_001341233.1:p.Gly344Arg
• NC_000012.11:g.103238149C>G
• NM_000277.1:c.1030G>C
• NM_000277.2(PAH):c.1030G>C
• P00439:p.Gly344Arg

This HGVS expression did not pass validation

Protein change:

G344R

Links:

UniProtKB: P00439#VAR_009247; dbSNP: rs62508679

NCBI 1000 Genomes Browser:

rs62508679

Molecular consequence:

• NM_000277.3:c.1030G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.1030G>C - missense variant - [Sequence Ontology: SO:0001583]