ClinVar

NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

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: 179210291 (on Assembly GRCh38)
• Chr3: 178928079 (on Assembly GRCh37)

Preferred name:

NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)

HGVS:

• NC_000003.12:g.179210291G>A
• NG_012113.2:g.66769G>A
• NM_006218.4:c.1357G>AMANE SELECT
• NP_006209.2:p.Glu453Lys
• LRG_310t1:c.1357G>A
• LRG_310:g.66769G>A
• NC_000003.11:g.178928079G>A
• NM_006218.2:c.1357G>A
• NM_006218.3:c.1357G>A
• p.E453K

This HGVS expression did not pass validation

Protein change:

E453K

Links:

dbSNP: rs1057519925

NCBI 1000 Genomes Browser:

rs1057519925

Molecular consequence:

• NM_006218.4:c.1357G>A - missense variant - [Sequence Ontology: SO:0001583]