Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 c.1599+1G>A
(
ENST00000645186.2,
ENST00000642936.1,
ENST00000219476.9,
ENST00000643946.1,
ENST00000644335.1,
ENST00000642206.2,
ENST00000644329.1,
ENST00000643088.1,
ENST00000401874.7,
ENST00000642561.1,
ENST00000568454.6,
ENST00000642365.2,
ENST00000646388.1,
ENST00000439673.6,
ENST00000644043.1,
ENST00000382538.10,
ENST00000642797.1,
ENST00000350773.9 )
TSC2 c.1599+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
- not provided
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.1599+1G>A AND not provided
- ClinVar Allele ID
- 58808
- ClinVar RefSeq Alternation Syntax
- NM_001406673.1:c.1587+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406668.1:c.1689+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406679.1:c.1452+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406682.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406664.1:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406670.1:c.1488+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406680.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406698.1:c.-4+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406697.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406696.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406665.1:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406671.1:c.1587+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.1452+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406667.1:c.1689+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406691.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406692.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.1488+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406694.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406678.1:c.1488+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406695.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406693.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406663.1:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.1632+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406675.1:c.1452+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406676.1:c.1452+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406688.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406687.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406677.1:c.1542+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406684.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406685.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406683.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406686.1:c.999+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406681.1:c.1137+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406689.1:c.255+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.1599+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406690.1:c.255+1G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002472947
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs