ClinVar

NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102844426 (on Assembly GRCh38)
• Chr12: 103238204 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)

HGVS:

• NC_000012.12:g.102844426G>C
• NG_008690.2:g.118985C>G
• NM_000277.3:c.975C>GMANE SELECT
• NM_001354304.2:c.975C>G
• NP_000268.1:p.Tyr325Ter
• NP_001341233.1:p.Tyr325Ter
• NC_000012.11:g.103238204G>C
• NM_000277.1:c.975C>G
• NM_000277.3(PAH):c.975C>GMANE SELECT
• p.Tyr325Ter

This HGVS expression did not pass validation

Protein change:

Y325*

Links:

dbSNP: rs62508573

NCBI 1000 Genomes Browser:

rs62508573

Molecular consequence:

• NM_000277.3:c.975C>G - nonsense - [Sequence Ontology: SO:0001587]
• NM_001354304.2:c.975C>G - nonsense - [Sequence Ontology: SO:0001587]