ClinVar

NM_000277.3(PAH):c.970-5T>A

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102844436 (on Assembly GRCh38)
• Chr12: 103238214 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.970-5T>A

HGVS:

• NC_000012.12:g.102844436A>T
• NG_008690.2:g.118975T>A
• NM_000277.3:c.970-5T>AMANE SELECT
• NM_001354304.2:c.970-5T>A
• NC_000012.11:g.103238214A>T
• NM_000277.1:c.970-5T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs62507273

NCBI 1000 Genomes Browser:

rs62507273

Molecular consequence:

• NM_000277.3:c.970-5T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354304.2:c.970-5T>A - intron variant - [Sequence Ontology: SO:0001627]