chr10:89717697:T>C Detail (hg19) (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	chr10:89,717,697-89,717,697
hg38	chr10:87,957,940-87,957,940 View the variant detail on this assembly version.

HGVS

PTEN

Type	Transcript	Protein
RefSeq	NM_001304718.1:c.722T>C	NP_001291647.1:p.Phe241Ser
	NM_000314.6:c.722T>C	NP_000305.3:p.Phe241Ser
	NM_001304717.2:c.722T>C	NP_001291646.2:p.Phe241Ser
Ensemble	ENST00000713839.1:c.815T>C	ENST00000713839.1:p.Phe272Ser
	ENST00000472832.3:c.722T>C	ENST00000472832.3:p.Phe241Ser
	ENST00000688308.1:c.722T>C	ENST00000688308.1:p.Phe241Ser
	ENST00000700021.1:c.677T>C	ENST00000700021.1:p.Phe226Ser
	ENST00000371953.8:c.722T>C	ENST00000371953.8:p.Phe241Ser
	ENST00000700029.2:c.722T>C	ENST00000700029.2:p.Phe241Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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	COSM5126	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-04-01	no assertion criteria provided	macrocephaly-autism syndrome	germline	Detail
Likely pathogenic	2023-06-14	reviewed by expert panel	PTEN hamartoma tumor syndrome	germline	Detail
Pathogenic	2022-12-16	criteria provided, single submitter	not provided	germline	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.722T>C (p.Phe241Ser) AND Macrocephaly-autism syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) AND PTEN hamartoma tumor syndrome	ClinVar	Detail
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) AND not provided	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: rs121909240 dbSNP
Genome: hg19
Position: chr10:89,717,697-89,717,697
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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