Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Phe860= (p.F860=)
(
ENST00000401874.7,
ENST00000439673.6,
ENST00000219476.9,
ENST00000382538.10,
ENST00000568454.6,
ENST00000350773.9,
ENST00000643088.1,
ENST00000642206.2,
ENST00000642365.2,
ENST00000642561.1,
ENST00000642797.1,
ENST00000642936.1,
ENST00000643946.1,
ENST00000644043.1,
ENST00000644329.1,
ENST00000644335.1,
ENST00000645186.2,
ENST00000646388.1 )
TSC2 p.Phe860= (p.F860=) ( ENST00000219476.9, ENST00000350773.9, ENST00000382538.10, ENST00000401874.7, ENST00000439673.6, ENST00000568454.6, ENST00000642206.2, ENST00000642365.2, ENST00000642561.1, ENST00000642797.1, ENST00000642936.1, ENST00000643088.1, ENST00000643946.1, ENST00000644043.1, ENST00000644329.1, ENST00000644335.1, ENST00000645186.2, ENST00000646388.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.2580T>C (p.Phe860=) AND not provided
- ClinVar Allele ID
- 58735
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.2613T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.1980T>C
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.2580T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.2469T>C
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.2433T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000587006
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs