chr16:2126142:C>T Detail (hg19) (TSC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:2,126,142-2,126,142 |
| hg38 | chr16:2,076,141-2,076,141 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001318827.1:c.2602C>T | NP_001305756.1:p.Arg868Trp |
| NM_001318831.1:c.2602C>T | NP_001305760.1:p.Arg868Trp | |
| NM_001077183.2:c.2713C>T | NP_001070651.1:p.Arg905Trp |
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
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-09 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2018-04-20 | criteria provided, single submitter | Tuberous sclerosis syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-12-17 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2021-06-30 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
unknown
|
Detail |
|
Pathogenic
|
2021-06-30 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
unknown
|
Detail |
|
Pathogenic
|
2021-06-30 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-11-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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.2713C>T (p.Arg905Trp) AND Tuberous sclerosis 2 | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND Tuberous sclerosis syndrome | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND not provided | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND multiple conditions | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND multiple conditions | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND multiple conditions | ClinVar | Detail |
| NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) AND Hereditary cancer-predisposing syndrome | 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
- rs45517258 dbSNP
- Genome
- hg19
- Position
- chr16:2,126,142-2,126,142
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser