chr3:179210293:AGATTTGCTGAACCC> Detail (hg38) (PIK3CA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:178,928,081-178,928,095
hg38	chr3:179,210,293-179,210,307

HGVS

PIK3CA

Type	Transcript	Protein
RefSeq	NM_006218.3:c.1359_1373delAGATTTGCTGAACCC	NP_006209.2:p.Glu453_Pro458delinsAsp
Ensemble	ENST00000263967.4:c.1359_1373delAGATTTGCTGAACCC	ENST00000263967.4:p.Glu453_Pro458delinsAsp
	ENST00000643187.1:c.1359_1373delAGATTTGCTGAACCC	ENST00000643187.1:p.Glu453_Pro458delinsAsp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

PIK3CA

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
Likely pathogenic	2010-10-21	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.137	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_006218.4(PIK3CA):c.1359_1373del (p.Glu453_Pro458delinsAsp) AND Non-small cell lung carcinoma	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: rs397517200 dbSNP
Genome: hg38
Position: chr3:179,210,293-179,210,307
Variant Type: snv
Reference Allele: AGATTTGCTGAACCC
Alternative Allele: -

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