Variant #0000858894 (NC_000003.11:g.178917488C>T, NM_006218.2:c.363C>T (PIK3CA))

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.178917488C>T
DNA change (hg38) -
Published as PIK3CA(NM_006218.2):c.363C>T (p.I121=, p.(Ile121=)), PIK3CA(NM_006218.4):c.363C>T (p.I121=)
ISCN -
DB-ID PIK3CA_000012 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00722 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2022-05-09 15:51:19 +02:00 (CEST)
Date last edited 2023-01-11 15:44:22 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNMB3 NM_001163677.1 -/. - c.*40296G>A r.(=) p.(=)
PIK3CA NM_006218.2 -/. - c.363C>T r.(?) p.(Ile121=)


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