chr1:11124523:G>A Detail (hg38) (MTOR)

Information

Genome

Assembly Position
hg19 chr1:11,184,580-11,184,580 View the variant detail on this assembly version.
hg38 chr1:11,124,523-11,124,523

HGVS

Type Transcript Protein
RefSeq NM_004958.3:c.6637C>T NP_004949.1:p.Pro2213Ser
Ensemble ENST00000361445.9:c.6637C>T ENST00000361445.9:p.Pro2213Ser
ENST00000703140.1:c.6424C>T ENST00000703140.1:p.Pro2142Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2016-03-10 no assertion provided melanoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Capivasertib,PI3K/BET Inhibitor LY294002 D Predictive Supports Sensitivity/Response Somatic 3 26490311 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a cell line (HEK293T) with expression of H1968Y or P2213S mTOR mutations, LY294002 and AZD5363 we... CIViC Evidence Detail
NM_004958.4(MTOR):c.6637C>T (p.Pro2213Ser) AND Melanoma 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
rs1057519871 dbSNP
Genome
hg38
Position
chr1:11,124,523-11,124,523
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
P2213S
Transcript 1 (CIViC Variant)
ENST00000361445.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/284
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