ClinVar

NM_000277.3(PAH):c.1065+3A>C

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102844333 (on Assembly GRCh38)
• Chr12: 103238111 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.1065+3A>C

HGVS:

• NC_000012.12:g.102844333T>G
• NG_008690.2:g.119078A>C
• NM_000277.3:c.1065+3A>CMANE SELECT
• NM_001354304.2:c.1065+3A>C
• NC_000012.11:g.103238111T>G
• NM_000277.1:c.1065+3A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs62508689

NCBI 1000 Genomes Browser:

rs62508689

Molecular consequence:

• NM_000277.3:c.1065+3A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354304.2:c.1065+3A>C - intron variant - [Sequence Ontology: SO:0001627]