Variant #0001046998 (NC_000003.11:g.178916936G>A, NM_006218.2:c.323G>A (PIK3CA))

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178916936G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PIK3CA_000277
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs886042002
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2025-07-21 16:24:01 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIK3CA NM_006218.2 +/. - c.323G>A r.(?) p.(Arg108His)


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