chr1:11190804:C>T Detail (hg19) (MTOR)

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

Genome

Assembly	Position
hg19	chr1:11,190,804-11,190,804
hg38	chr1:11,130,747-11,130,747 View the variant detail on this assembly version.

HGVS

MTOR

Type	Transcript	Protein
RefSeq	NM_004958.3:c.5395G>A	NP_004949.1:p.Glu1799Lys
Ensemble	ENST00000361445.9:c.5395G>A	ENST00000361445.9:p.Glu1799Lys
	ENST00000703140.1:c.5182G>A	ENST00000703140.1:p.Glu1728Lys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MTOR

Type	Database	ID	Link
Gene	MIM	601231	OMIM
	HGNC	3942	HGNC
	Ensembl	ENSG00000198793	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM180789	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2020/04/20	sigmoid colon	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2020/04/20	descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-09-30	criteria provided, multiple submitters, no conflicts	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	unknown de novo germline	Detail
Pathogenic	2023-12-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2016-04-27	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic		no assertion criteria provided		unknown	Detail
Pathogenic		no assertion criteria provided	Rare genetic intellectual disability	de novo	Detail
Pathogenic	2020-09-01	criteria provided, single submitter	CEBALID syndrome	somatic	Detail
Pathogenic	2019-07-10	criteria provided, single submitter	Isolated focal cortical dysplasia type II	unknown	Detail
Pathogenic	2021-08-02	criteria provided, single submitter	intellectual disability	de novo	Detail
Pathogenic		criteria provided, single submitter	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,Isolated focal cortical dysplasia type II	de novo	Detail
Pathogenic		criteria provided, single submitter	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,Isolated focal cortical dysplasia type II	de novo	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
clear cell renal cell carcinoma	Sirolimus	D	Predictive	Supports	Sensitivity/Response	Somatic	2	24631838	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The ...	CIViC Evidence	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Macrocephaly-intellectual disability-neurodevelopment...	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND not provided	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Inborn genetic diseases	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Intellectual disability, severe	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Rare genetic intellectual disability	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND CEBALID syndrome	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Isolated focal cortical dysplasia type II	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND Intellectual disability	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND multiple conditions	ClinVar	Detail
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) AND multiple conditions	ClinVar	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: rs863225264 dbSNP
Genome: hg19
Position: chr1:11,190,804-11,190,804
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): E1799K
Transcript 1 (CIViC Variant): ENST00000361445.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/544

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