ClinVar

NM_000277.3(PAH):c.981T>G (p.Phe327Leu)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102844420 (on Assembly GRCh38)
• Chr12: 103238198 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.981T>G (p.Phe327Leu)

HGVS:

• NC_000012.12:g.102844420A>C
• NG_008690.2:g.118991T>G
• NM_000277.1(PAH):c.981T>G
• NM_000277.3:c.981T>GMANE SELECT
• NM_001354304.2:c.981T>G
• NP_000268.1:p.Phe327Leu
• NP_001341233.1:p.Phe327Leu
• NC_000012.11:g.103238198A>C
• NM_000277.1(PAH):c.981T>G
• NM_000277.1:c.981T>G
• p.Phe327Leu

This HGVS expression did not pass validation

Protein change:

F327L

Links:

dbSNP: rs199475642

NCBI 1000 Genomes Browser:

rs199475642

Molecular consequence:

• NM_000277.3:c.981T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.981T>G - missense variant - [Sequence Ontology: SO:0001583]