Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Gln1525Lys (p.Q1525K)
(
ENST00000568454.6,
ENST00000644329.1,
ENST00000643088.1,
ENST00000401874.7,
ENST00000642561.1,
ENST00000643946.1,
ENST00000644335.1,
ENST00000642206.2,
ENST00000219476.9,
ENST00000642936.1,
ENST00000645186.2,
ENST00000350773.9,
ENST00000642797.1,
ENST00000644043.1,
ENST00000382538.10,
ENST00000439673.6,
ENST00000646388.1,
ENST00000642365.2 )
TSC2 p.Gln1525Lys (p.Q1525K) ( 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
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.4573C>A (p.Gln1525Lys) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 2429598
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.4405C>A
- ClinVar RefSeq Alternation Syntax
- NR_176228.1:n.4522C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406668.1:c.4462C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406691.1:c.3097C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406671.1:c.4363C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406675.1:c.4357C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406679.1:c.4225C>A
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.4573C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406665.1:c.4495C>A
- ClinVar RefSeq Alternation Syntax
- NR_176226.1:n.4773C>A
- ClinVar RefSeq Alternation Syntax
- NR_176229.1:n.4482C>A
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.4441C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406678.1:c.4261C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406697.1:c.3028C>A
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.4372C>A
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.4375C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406696.1:c.3028C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406684.1:c.3901C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406677.1:c.4315C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406681.1:c.3913C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406685.1:c.3775C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406695.1:c.3028C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406698.1:c.2770C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406686.1:c.3775C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406670.1:c.4393C>A
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.4444C>A
- ClinVar RefSeq Alternation Syntax
- NR_176225.1:n.4525C>A
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.4504C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406664.1:c.4501C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406687.1:c.3772C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406688.1:c.3772C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406667.1:c.4465C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406693.1:c.3031C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406682.1:c.3904C>A
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.4444C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.4228C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406680.1:c.3973C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406694.1:c.3031C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406683.1:c.3904C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406689.1:c.3160C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406690.1:c.3100C>A
- ClinVar RefSeq Alternation Syntax
- NR_176227.1:n.4701C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.4264C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406692.1:c.3031C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406676.1:c.4354C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406673.1:c.4360C>A
- ClinVar RefSeq Alternation Syntax
- NM_001406663.1:c.4570C>A
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.3841C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-12-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003171902
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs