chr16:2103341:A>G Detail (hg19) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,103,341-2,103,341 |
hg38 | chr16:2,053,340-2,053,340 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318827.1:c.226-956A>G | |
NM_001318831.1:c.226-956A>G | ||
NM_001318829.1:c.79-2A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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.226-2A>G AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.226-2A>G AND Tuberous sclerosis 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs45517096 dbSNP
- Genome
- hg19
- Position
- chr16:2,103,341-2,103,341
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser