PIK3CD p.Trp162Arg (p.W162R) Detail (hg38) (PIK3CD)

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

Genome

Assembly	Position
hg19	chr1:9,776,020-9,776,020
hg38	chr1:9,715,962-9,715,962

HGVS

PIK3CD

Type	Transcript	Protein
RefSeq	NM_005026.3:c.484T>C	NP_005017.3:p.Trp162Arg
Ensemble	ENST00000361110.6:c.484T>C	ENST00000361110.6:p.Trp162Arg
	ENST00000377346.9:c.484T>C	ENST00000377346.9:p.Trp162Arg
	ENST00000698709.1:c.484T>C	ENST00000698709.1:p.Trp162Arg
	ENST00000698710.1:c.484T>C	ENST00000698710.1:p.Trp162Arg
	ENST00000698712.1:c.484T>C	ENST00000698712.1:p.Trp162Arg
	ENST00000698713.1:c.484T>C	ENST00000698713.1:p.Trp162Arg
	ENST00000698714.1:c.484T>C	ENST00000698714.1:p.Trp162Arg
	ENST00000698715.1:c.484T>C	ENST00000698715.1:p.Trp162Arg
	ENST00000698716.1:c.484T>C	ENST00000698716.1:p.Trp162Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PIK3CD

Type	Database	ID	Link
Gene	MIM	602839	OMIM
	HGNC	8977	HGNC
	Ensembl	ENSG00000171608	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided	2017/12/14	Endometrioid adenocarcinoma	somatic	MGS000017 (TMGS000052)	Kohei Miyazono	Tokyo University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: -
Genome: hg38
Position: chr1:9,715,962-9,715,962
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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