Variant #0000305618 (NC_000003.11:g.178916876G>A, NM_006218.2:c.263G>A (PIK3CA))

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.178916876G>A
DNA change (hg38) g.179199088G>A
Published as PIK3CA(NM_006218.2):c.263G>A (p.R88Q), PIK3CA(NM_006218.4):c.263G>A (p.R88Q)
ISCN -
DB-ID PIK3CA_000010 See all 3 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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2023-11-27 17:27:23 +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.*40908C>T r.(=) p.(=)
PIK3CA NM_006218.2 +?/. - c.263G>A r.(?) p.(Arg88Gln)


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