ClinVar

NM_000277.3(PAH):c.929C>A (p.Ser310Tyr)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102846935 (on Assembly GRCh38)
• Chr12: 103240713 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.929C>A (p.Ser310Tyr)

HGVS:

• NC_000012.12:g.102846935G>T
• NG_008690.2:g.116476C>A
• NM_000277.3:c.929C>AMANE SELECT
• NM_001354304.2:c.929C>A
• NP_000268.1:p.Ser310Tyr
• NP_001341233.1:p.Ser310Tyr
• NC_000012.11:g.103240713G>T
• NM_000277.1:c.929C>A
• P00439:p.Ser310Tyr

This HGVS expression did not pass validation

Protein change:

S310Y

Links:

UniProtKB: P00439#VAR_068005; dbSNP: rs62642913

NCBI 1000 Genomes Browser:

rs62642913

Molecular consequence:

• NM_000277.3:c.929C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354304.2:c.929C>A - missense variant - [Sequence Ontology: SO:0001583]