Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Gln1503Pro (p.Q1503P)
(
ENST00000219476.9,
ENST00000642936.1,
ENST00000645186.2,
ENST00000568454.6,
ENST00000642561.1,
ENST00000401874.7,
ENST00000643088.1,
ENST00000644329.1,
ENST00000642206.2,
ENST00000644335.1,
ENST00000643946.1,
ENST00000439673.6,
ENST00000646388.1,
ENST00000642365.2,
ENST00000350773.9,
ENST00000642797.1,
ENST00000382538.10,
ENST00000644043.1 )
TSC2 p.Gln1503Pro (p.Q1503P) ( 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.4508A>C (p.Gln1503Pro) AND Tuberous sclerosis syndrome
- ClinVar Allele ID
- 27440
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.4376A>C
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.4508A>C
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.4439A>C
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.4379A>C
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.4307A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.4340A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.3776A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.4163A>C
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.4379A>C
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.4310A>C
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.4199A>C
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-12-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000043266
- ClinVar Disease
- Tuberous sclerosis syndrome
- Observed Origin Sample
- germline
Drugs