Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 c.5160+1G>A
(
ENST00000646388.1,
ENST00000642365.2,
ENST00000439673.6,
ENST00000382538.10,
ENST00000644043.1,
ENST00000350773.9,
ENST00000642797.1,
ENST00000645186.2,
ENST00000219476.9,
ENST00000642936.1,
ENST00000642206.2,
ENST00000644335.1,
ENST00000643946.1,
ENST00000568454.6,
ENST00000642561.1,
ENST00000643088.1,
ENST00000401874.7,
ENST00000644329.1 )
TSC2 c.5160+1G>A ( 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.5160+1G>A AND multiple conditions
- ClinVar Allele ID
- 58587
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.5160+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406664.1:c.5088+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406693.1:c.3618+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.4959+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406673.1:c.4947+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406682.1:c.4491+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406698.1:c.3357+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406679.1:c.4812+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.5031+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.5091+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406691.1:c.3684+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406688.1:c.4359+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.4992+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406681.1:c.4500+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406678.1:c.4848+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406685.1:c.4362+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.4851+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406671.1:c.4950+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406696.1:c.3615+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406689.1:c.3747+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406676.1:c.4941+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406680.1:c.4560+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406694.1:c.3618+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406692.1:c.3618+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.4815+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.4428+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406687.1:c.4359+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406677.1:c.4902+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406690.1:c.3687+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406697.1:c.3615+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406665.1:c.5082+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.4962+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406667.1:c.5052+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406668.1:c.5049+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406686.1:c.4362+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406675.1:c.4944+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406695.1:c.3615+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.5028+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406670.1:c.4980+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406683.1:c.4491+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406684.1:c.4488+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.5031+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406663.1:c.5157+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496673
- ClinVar Disease
- Tuberous sclerosis 2
- ClinVar Disease
- Lymphangiomyomatosis
- ClinVar Disease
- Isolated focal cortical dysplasia type II
- Observed Origin Sample
- unknown
Drugs