chr1:11130747:C>T Detail (hg38) (MTOR)

Information

Genome

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

HGVS

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
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
[No Data.]
MGeND
[No Data.]
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

DescrptionSourceLinks
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
hg38
Position
chr1:11,130,747-11,130,747
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
Genome browser