chr16:2080299:C>T Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,130,300-2,130,300 View the variant detail on this assembly version. |
hg38 | chr16:2,080,299-2,080,299 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.3532C>T | NP_000539.2:p.Gln1178Ter |
NM_001114382.2:c.3532C>T | NP_001107854.1:p.Gln1178Ter | |
NM_001318829.1:c.3256C>T | NP_001305758.1:p.Gln1086Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | Tuberous sclerosis syndrome |
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Detail | |
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2017-02-03 | criteria provided, single submitter | not provided |
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Detail |
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2022-11-23 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
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Detail |
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
thyroid gland carcinoma | Everolimus | C |
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Sensitivity/Response | Somatic | 5 | 25295501 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
The pretreatment tumor contained a somatic nonsense mutation (Q1178*) in the tumor-suppressor gene T... | CIViC Evidence | Detail |
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND not provided | ClinVar | Detail |
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) AND Tuberous sclerosis 2 | 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
- rs45517297 dbSNP
- Genome
- hg38
- Position
- chr16:2,080,299-2,080,299
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- Q1178*
- Transcript 1 (CIViC Variant)
- ENST00000219476.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/469
Genome browser