ClinVar

NM_000277.3(PAH):c.133G>T (p.Val45Phe)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102912826 (on Assembly GRCh38)
• Chr12: 103306604 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.133G>T (p.Val45Phe)

HGVS:

• NC_000012.12:g.102912826C>A
• NG_008690.2:g.50585G>T
• NM_000277.3:c.133G>TMANE SELECT
• NM_001354304.2:c.133G>T
• NP_000268.1:p.Val45Phe
• NP_001341233.1:p.Val45Phe
• NC_000012.11:g.103306604C>A
• NC_000012.11:g.103306604C>A
• NM_000277.1:c.133G>T

This HGVS expression did not pass validation

Protein change:

V45F

Links:

dbSNP: rs1878255139

NCBI 1000 Genomes Browser:

rs1878255139

Molecular consequence:

• NM_000277.3:c.133G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.133G>T - missense variant - [Sequence Ontology: SO:0001583]