chr16:2079350:TG> Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,129,351-2,129,352 |
hg38 | chr16:2,079,350-2,079,351 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.3206_3207delTG | NP_000539.2:p.Val1069AspfsTer98 |
NM_001114382.2:c.3206_3207delTG | NP_001107854.1:p.Val1069AspfsTer98 | |
NM_001318829.1:c.2930_2931delTG | NP_001305758.1:p.Val977AspfsTer98 |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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
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
- rs137854076 dbSNP
- Genome
- hg38
- Position
- chr16:2,079,350-2,079,351
- Variant Type
- snv
- Reference Allele
- TG
- Alternative Allele
- -
Genome browser