ClinVar

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

Gene:

PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.32

Genomic location:

• Chr3: 179218294 (on Assembly GRCh38)
• Chr3: 178936082 (on Assembly GRCh37)

Preferred name:

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

Other names:

NM_006218.3(PIK3CA):c.1624G>A; NM_006218.4(PIK3CA):c.1624G>A

HGVS:

• NC_000003.12:g.179218294G>A
• NG_012113.2:g.74772G>A
• NM_006218.4:c.1624G>AMANE SELECT
• NP_006209.2:p.Glu542Lys
• LRG_310t1:c.1624G>A
• LRG_310:g.74772G>A
• NC_000003.11:g.178936082G>A
• NM_006218.2:c.1624G>A
• NM_006218.3:c.1624G>A
• P42336:p.Glu542Lys
• NM_006218.2:c.1625G>A

This HGVS expression did not pass validation

Protein change:

E542K; GLU542LYS

Links:

UniProtKB: P42336#VAR_026173; OMIM: 171834.0009; dbSNP: rs121913273

NCBI 1000 Genomes Browser:

rs121913273

Molecular consequence:

• NM_006218.4:c.1624G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

gain_of_function_variant [Sequence Ontology: SO:0002053]