chr1:11217230:C>T Detail (hg19) (MTOR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:11,217,230-11,217,230 |
| hg38 | chr1:11,157,173-11,157,173 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004958.3:c.4448G>A | NP_004949.1:p.Cys1483Tyr |
| Ensemble | ENST00000361445.9:c.4448G>A | ENST00000361445.9:p.Cys1483Tyr |
| ENST00000703140.1:c.4235G>A | ENST00000703140.1:p.Cys1412Tyr |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
Pathogenic
|
2020-09-01 | no assertion criteria provided | CEBALID syndrome |
somatic
|
Detail |
|
Pathogenic
|
2022-02-17 | reviewed by expert panel | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
germline
|
Detail |
|
Pathogenic
|
2022-03-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2023-01-12 | no assertion criteria provided | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
de novo
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| T-cell acute lymphoblastic leukemia | 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.4448G>A (p.Cys1483Tyr) AND Breast neoplasm | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND Glioblastoma | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND CEBALID syndrome | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND Overgrowth syndrome and/or cerebral malformations due... | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND not provided | ClinVar | Detail |
| NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr) AND Macrocephaly-intellectual disability-neurodevelopment... | 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
- rs786205165 dbSNP
- Genome
- hg19
- Position
- chr1:11,217,230-11,217,230
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- C1483Y
- Transcript 1 (CIViC Variant)
- ENST00000361445.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/543
Genome browser