chr16:2062982:C>T Detail (hg38) (TSC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:2,112,983-2,112,983 View the variant detail on this assembly version. |
| hg38 | chr16:2,062,982-2,062,982 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000548.4:c.1372C>T | NP_000539.2:p.Arg458Ter |
| NM_001114382.2:c.1372C>T | NP_001107854.1:p.Arg458Ter | |
| NM_001318829.1:c.1225C>T | NP_001305758.1:p.Arg409Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
LYMPHANGIOLEIOMYOMATOSIS; LAM |
germline
|
MGS000009
(TMGS000012) |
Shoji Tsuji | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2019-07-17 | criteria provided, single submitter | Tuberous sclerosis syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-07-25 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
germline
|
Detail |
|
Pathogenic
|
2022-12-17 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2016-08-04 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.441 | TUBEROUS SCLEROSIS 2 (disorder) | NA | CLINVAR | Detail | |
| 0.494 | tuberous sclerosis | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) AND Tuberous sclerosis syndrome | ClinVar | Detail |
| NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) AND Tuberous sclerosis 2 | ClinVar | Detail |
| NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) AND not provided | ClinVar | Detail |
| NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) AND Inborn genetic diseases | ClinVar | Detail |
| NA | DisGeNET | 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
- rs45517169 dbSNP
- Genome
- hg38
- Position
- chr16:2,062,982-2,062,982
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser