Variant #0000748841 (NC_000003.11:g.178919219C>T, NM_006218.2:c.704C>T (PIK3CA))

Individual ID 00347980
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.178919219C>T
DNA change (hg38) -
Published as chr3_178919219_C_T
ISCN -
DB-ID PIK3CA_000083
Variant remarks not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types
Reference PubMed: Dorling 2021, Journal: Dorling 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/60466 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner BRIDGES consortium
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-03-11 12:04:16 +01:00 (CET)
Date last edited 2022-05-25 04:47:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIK3CA NM_006218.2 ?/. - c.704C>T r.(?) p.(Ser235Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000349210 DNA SEQ-NG - 34-gene panel PIK3CA 1 BRIDGES consortium


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