chr16:2138319:GCCAGCGGGTAGGGAATATGGGGCTCC> Detail (hg19) (TSC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:2,138,319-2,138,345 |
hg38 | chr16:2,088,318-2,088,344 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001318829.1:c.4907_4914+19delGCCAGCGGGTAGGGAATATGGGGCTCC | NP_001305758.1:p.Arg1636HisfsTer21 |
NM_001114382.2:c.5183_5190+19delGCCAGCGGGTAGGGAATATGGGGCTCC | NP_001107854.1:p.Arg1728HisfsTer21 | |
NM_001318827.1:c.4943_4950+19delGCCAGCGGGTAGGGAATATGGGGCTCC | NP_001305756.1:p.Arg1648HisfsTer21 |
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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2023-10-16 | criteria provided, multiple submitters, no conflicts | tuberous sclerosis 2 |
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Detail |
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2020-04-27 | criteria provided, single submitter | not provided |
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Detail |
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.5252_5259+19del AND Tuberous sclerosis syndrome | ClinVar | Detail |
NM_000548.5(TSC2):c.5252_5259+19del AND Tuberous sclerosis 2 | ClinVar | Detail |
NM_000548.5(TSC2):c.5252_5259+19del AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | 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
- rs137854397 dbSNP
- Genome
- hg19
- Position
- chr16:2,138,319-2,138,345
- Variant Type
- snv
- Reference Allele
- GCCAGCGGGTAGGGAATATGGGGCTCC
- Alternative Allele
- -
Genome browser