Variant #0000329709 (NC_000003.11:g.178916624G>C, NM_006218.2:c.11G>C (PIK3CA))

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.178916624G>C
DNA change (hg38) g.179198836G>C
Published as PIK3CA(NM_006218.2):c.11G>C (p.(Arg4Pro))
ISCN -
DB-ID PIK3CA_000008
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) Retrieve
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +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.*41160C>G r.(=) p.(=)
PIK3CA NM_006218.2 ?/. - c.11G>C r.(?) p.(Arg4Pro)


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