chr16:2079380:C>G Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,129,381-2,129,381 View the variant detail on this assembly version. |
hg38 | chr16:2,079,380-2,079,380 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.3236C>G | NP_000539.2:p.Ser1079Trp |
NM_001114382.2:c.3236C>G | NP_001107854.1:p.Ser1079Trp | |
NM_001318829.1:c.2960C>G | NP_001305758.1:p.Ser987Trp |
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 |
---|---|---|---|---|---|
0.494 | 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
- rs397515087 dbSNP
- Genome
- hg38
- Position
- chr16:2,079,380-2,079,380
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser