Variant #0000000678 (NC_000003.12:g.179234297A>G, PIK3CA(NM_006218.3):c.3140A>G)

Individual ID 00000131
Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.179234297A>G
Published as H1047R
Reference Sharifah Nurain Syed Zanaruddin et al. (2013), dbSNP, (OMIM 0001), ClinVar
DB-ID PIK3CA_000002 See all 3 reported entries
dbSNP ID rs121913279
Frequency 2/7
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PIK3CA NM_006218.3 +/. - c.3140A>G - r.(?) p.(His1047Arg) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000146 DNA PCR;SEQ PIK3CA 5 Nuur Athirah Binti Mohd Daud