chr3:179204588:G>A Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,922,376-178,922,376 View the variant detail on this assembly version.
hg38 chr3:179,204,588-179,204,588

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.1145G>A NP_006209.2:p.Arg382Lys
Ensemble ENST00000263967.4:c.1145G>A ENST00000263967.4:p.Arg382Lys
ENST00000643187.1:c.1145G>A ENST00000643187.1:p.Arg382Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 171834 OMIM
HGNC 8975 HGNC
Ensembl ENSG00000121879 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2013-01-10 no assertion criteria provided Cowden syndrome 5 germline Detail
Uncertain significance 2018-09-16 no assertion criteria provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Cowden syndrome 5 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) AND Cowden syndrome 5 ClinVar Detail
NM_006218.4(PIK3CA):c.1145G>A (p.Arg382Lys) AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587777794 dbSNP
Genome
hg38
Position
chr3:179,204,588-179,204,588
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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