chr16:2130366:C>T Detail (hg19) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,130,366-2,130,366 |
hg38 | chr16:2,080,365-2,080,365 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001077183.2:c.3466C>T | NP_001070651.1:p.Arg1156Trp |
NM_001318827.1:c.3358C>T | NP_001305756.1:p.Arg1120Trp | |
NM_001318831.1:c.3358C>T | NP_001305760.1:p.Arg1120Trp |
Summary
MGeND
Clinical significance |
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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 |
---|---|---|---|---|---|---|---|---|---|
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2020/04/20 | colon, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-05-25 | criteria provided, multiple submitters, no conflicts | Tuberous sclerosis syndrome |
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Detail |
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2023-04-14 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-02-21 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
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Detail |
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2021-04-22 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-02-01 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
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Detail |
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2022-02-01 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
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Detail |
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2022-02-01 | criteria provided, single submitter | Isolated focal cortical dysplasia type II,Lymphangiomyomatosis,tuberous sclerosis 2 |
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Detail |
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2023-10-25 | criteria provided, single submitter | TSC2-related disorder |
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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 | |
0.494 | tuberous sclerosis | Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutatio... | BeFree | 21332470 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND not provided | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Tuberous sclerosis 2 | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND multiple conditions | ClinVar | Detail |
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) AND TSC2-related disorder | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates... | 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
- rs45438205 dbSNP
- Genome
- hg19
- Position
- chr16:2,130,366-2,130,366
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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