ClinVar

NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 102894769 - 102894777 (on Assembly GRCh38)
• Chr12: 103288547 - 103288555 (on Assembly GRCh37)

Preferred name:

NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)

Other names:

NM_000277.2(PAH):c.310_318delGCCACTGTC

HGVS:

• NC_000012.12:g.102894769_102894777del
• NG_008690.2:g.68634_68642del
• NM_000277.3:c.310_318delMANE SELECT
• NM_001354304.2:c.310_318del
• NP_000268.1:p.Ala104_Val106del
• NP_001341233.1:p.Ala104_Val106del
• NC_000012.11:g.103288547_103288555del
• NC_000012.12:g.102894769_102894777delGACAGTGGC
• NM_000277.1:c.310_318delGCCACTGTC

This HGVS expression did not pass validation

Links:

dbSNP: rs398123291

NCBI 1000 Genomes Browser:

rs398123291

Molecular consequence:

• NM_000277.3:c.310_318del - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001354304.2:c.310_318del - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

1