chr16:2074303:TCA> Detail (hg38) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,124,304-2,124,306 |
hg38 | chr16:2,074,303-2,074,305 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000548.4:c.2459_2461delTCA | NP_000539.2:p.Ile820del |
NM_001114382.2:c.2459_2461delTCA | NP_001107854.1:p.Ile820del | |
NM_001318829.1:c.2312_2314delTCA | NP_001305758.1:p.Ile771del |
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
- rs137854128 dbSNP
- Genome
- hg38
- Position
- chr16:2,074,303-2,074,305
- Variant Type
- snv
- Reference Allele
- TCA
- Alternative Allele
- -
Genome browser