ClinVar

NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)

Gene:

PIK3CG:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.3

Genomic location:

• Chr7: 106869174 (on Assembly GRCh38)
• Chr7: 106509619 (on Assembly GRCh37)

Preferred name:

NM_001282426.2(PIK3CG):c.1613C>T (p.Pro538Leu)

HGVS:

• NC_000007.14:g.106869174C>T
• NG_050579.1:g.8897C>T
• NM_001282426.2:c.1613C>TMANE SELECT
• NM_001282427.2:c.1613C>T
• NM_002649.3:c.1613C>T
• NP_001269355.1:p.Pro538Leu
• NP_001269356.1:p.Pro538Leu
• NP_002640.2:p.Pro538Leu
• NC_000007.13:g.106509619C>T

This HGVS expression did not pass validation

Protein change:

P538L

Links:

dbSNP: rs142822484

NCBI 1000 Genomes Browser:

rs142822484

Molecular consequence:

• NM_001282426.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282427.2:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002649.3:c.1613C>T - missense variant - [Sequence Ontology: SO:0001583]