Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 c.2546-2A>G
(
ENST00000568454.6,
ENST00000644329.1,
ENST00000642561.1,
ENST00000401874.7,
ENST00000643088.1,
ENST00000643946.1,
ENST00000642206.2,
ENST00000644335.1,
ENST00000219476.9,
ENST00000642936.1,
ENST00000645186.2,
ENST00000350773.9,
ENST00000642797.1,
ENST00000644043.1,
ENST00000382538.10,
ENST00000439673.6,
ENST00000646388.1,
ENST00000642365.2 )
TSC2 c.2546-2A>G ( 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
- Tuberous sclerosis syndrome
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.2546-2A>G AND Tuberous sclerosis syndrome
- ClinVar Allele ID
- 58942
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406675.1:c.2399-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.2579-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406673.1:c.2534-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406680.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406668.1:c.2636-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406685.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406695.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406670.1:c.2435-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406683.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406664.1:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406693.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406688.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406691.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406671.1:c.2534-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406677.1:c.2489-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406696.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406686.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406663.1:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.2435-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406678.1:c.2435-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406676.1:c.2399-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406698.1:c.944-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406692.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406665.1:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406679.1:c.2399-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406684.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406694.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406681.1:c.2084-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406682.1:c.1946-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406689.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406697.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.2546-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406667.1:c.2636-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406690.1:c.1202-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.2399-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001406687.1:c.1946-2A>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000043045
- ClinVar Disease
- Tuberous sclerosis syndrome
- Observed Origin Sample
- germline
Drugs