chr10:87931074:A>C Detail (hg38) (PTEN)

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

Genome

Assembly	Position
hg19	chr10:89,690,831-89,690,831 View the variant detail on this assembly version.
hg38	chr10:87,931,074-87,931,074

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.238A>C	NP_000305.3:p.Lys80Gln
	NM_001304717.2:c.238A>C	NP_001291646.2:p.Lys80Gln
	NM_001304718.1:c.238A>C	NP_001291647.1:p.Lys80Gln
Ensemble	ENST00000371953.8:c.238A>C	ENST00000371953.8:p.Lys80Gln
	ENST00000472832.3:c.238A>C	ENST00000472832.3:p.Lys80Gln
	ENST00000688308.1:c.238A>C	ENST00000688308.1:p.Lys80Gln
	ENST00000700021.1:c.193A>C	ENST00000700021.1:p.Lys65Gln
	ENST00000700029.2:c.238A>C	ENST00000700029.2:p.Lys80Gln
	ENST00000713839.1:c.331A>C	ENST00000713839.1:p.Lys111Gln

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
	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: rs786204925 dbSNP
Genome: hg38
Position: chr10:87,931,074-87,931,074
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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