chr10:87864490:GA> Detail (hg38) (PTEN)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr10:89,624,247-89,624,248
hg38	chr10:87,864,490-87,864,491

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.21_22delGA	NP_000305.3:p.Glu7AspfsTer3
	NM_001304717.2:c.21_22delGA	NP_001291646.2:p.Glu7AspfsTer3
	NM_001304718.1:c.21_22delGA	NP_001291647.1:p.Glu7AspfsTer3
Ensemble	ENST00000371953.8:c.21_22delGA	ENST00000371953.8:p.Glu7AspfsTer3
	ENST00000472832.3:c.21_22delGA	ENST00000472832.3:p.Glu7AspfsTer3
	ENST00000688308.1:c.21_22delGA	ENST00000688308.1:p.Glu7AspfsTer3
	ENST00000700021.1:c.21_22delGA	ENST00000700021.1:p.Glu7AspfsTer3
	ENST00000700029.2:c.21_22delGA	ENST00000700029.2:p.Glu7AspfsTer3
	ENST00000713839.1:c.21_22delGA	ENST00000713839.1:p.Glu7AspfsTer3

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PTEN

Type	Database	ID	Link
Gene	MIM	601728	OMIM
	HGNC	9588	HGNC
	Ensembl	ENSG00000171862	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM21341	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.122	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs786204881 dbSNP
Genome: hg38
Position: chr10:87,864,490-87,864,491
Variant Type: snv
Reference Allele: GA
Alternative Allele: -

Genome browser