Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Ser1079Ter (p.S1079*)
(
ENST00000642365.2,
ENST00000646388.1,
ENST00000439673.6,
ENST00000644043.1,
ENST00000382538.10,
ENST00000642797.1,
ENST00000350773.9,
ENST00000645186.2,
ENST00000642936.1,
ENST00000219476.9,
ENST00000643946.1,
ENST00000644335.1,
ENST00000642206.2,
ENST00000644329.1,
ENST00000643088.1,
ENST00000401874.7,
ENST00000642561.1,
ENST00000568454.6 )
TSC2 p.Ser1079Ter (p.S1079*) ( 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
- Isolated focal cortical dysplasia type II tuberous sclerosis 2 Lymphangiomyomatosis
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) AND multiple conditions
- ClinVar Allele ID
- 76048
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.3236C>A
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.3104C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.3137C>A
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.3104C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.2504C>A
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.3107C>A
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.3107C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.2960C>A
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.3107C>A
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.3236C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.2996C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-08-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496738
- ClinVar Disease
- Tuberous sclerosis 2
- ClinVar Disease
- Lymphangiomyomatosis
- ClinVar Disease
- Isolated focal cortical dysplasia type II
- Observed Origin Sample
- unknown
Drugs