chr10:87952170:T>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	chr10:89,711,927-89,711,927 View the variant detail on this assembly version.
hg38	chr10:87,952,170-87,952,170

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_000314.6:c.545T>C	NP_000305.3:p.Leu182Ser
	NM_001304717.2:c.545T>C	NP_001291646.2:p.Leu182Ser
	NM_001304718.1:c.545T>C	NP_001291647.1:p.Leu182Ser
Ensemble	ENST00000371953.8:c.545T>C	ENST00000371953.8:p.Leu182Ser
	ENST00000472832.3:c.545T>C	ENST00000472832.3:p.Leu182Ser
	ENST00000688308.1:c.545T>C	ENST00000688308.1:p.Leu182Ser
	ENST00000700021.1:c.500T>C	ENST00000700021.1:p.Leu167Ser
	ENST00000700029.2:c.545T>C	ENST00000700029.2:p.Leu182Ser
	ENST00000713839.1:c.638T>C	ENST00000713839.1:p.Leu213Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-03-01	no assertion criteria provided	macrocephaly-autism syndrome	germline	Detail
Uncertain significance	2023-12-01	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2020-03-01	criteria provided, single submitter	Cowden syndrome 1	biparental	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.560	MACROCEPHALY/AUTISM SYNDROME	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) AND Macrocephaly-autism syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) AND Cowden syndrome 1	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: rs794729664 dbSNP
Genome: hg38
Position: chr10:87,952,170-87,952,170
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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