ClinVar

NM_000277.3(PAH):c.963C>T (p.Leu321=)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102846901 (on Assembly GRCh38)
• Chr12: 103240679 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.963C>T (p.Leu321=)

Other names:

NM_000277.2(PAH):c.963C>T

HGVS:

• NC_000012.12:g.102846901G>A
• NG_008690.2:g.116510C>T
• NM_000277.3:c.963C>TMANE SELECT
• NM_001354304.2:c.963C>T
• NP_000268.1:p.Leu321=
• NP_001341233.1:p.Leu321=
• NC_000012.11:g.103240679G>A
• NM_000277.1:c.963C>T
• p.=

This HGVS expression did not pass validation

Links:

dbSNP: rs61747292

NCBI 1000 Genomes Browser:

rs61747292

Molecular consequence:

• NM_000277.3:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354304.2:c.963C>T - synonymous variant - [Sequence Ontology: SO:0001819]