ClinVar

NM_000277.3(PAH):c.912+229C>G

Genes:

LOC126861615:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888 [Gene]
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102851458 (on Assembly GRCh38)
• Chr12: 103245236 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.912+229C>G

HGVS:

• NC_000012.12:g.102851458G>C
• NG_008690.2:g.111953C>G
• NM_000277.3:c.912+229C>GMANE SELECT
• NM_001354304.2:c.912+229C>G
• NC_000012.11:g.103245236G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs12831013

NCBI 1000 Genomes Browser:

rs12831013

Molecular consequence:

• NM_000277.3:c.912+229C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001354304.2:c.912+229C>G - intron variant - [Sequence Ontology: SO:0001627]