ClinVar

NM_000277.3(PAH):c.161T>C (p.Leu54Ser)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102912798 (on Assembly GRCh38)
• Chr12: 103306576 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.161T>C (p.Leu54Ser)

HGVS:

• NC_000012.12:g.102912798A>G
• NG_008690.2:g.50613T>C
• NM_000277.3:c.161T>CMANE SELECT
• NM_001354304.2:c.161T>C
• NP_000268.1:p.Leu54Ser
• NP_001341233.1:p.Leu54Ser
• NC_000012.11:g.103306576A>G
• NM_000277.1:c.161T>C

This HGVS expression did not pass validation

Protein change:

L54S

Links:

dbSNP: rs199475677

NCBI 1000 Genomes Browser:

rs199475677

Molecular consequence:

• NM_000277.3:c.161T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.161T>C - missense variant - [Sequence Ontology: SO:0001583]