Annotation Detail
Information
- Associated Genes
- TSC2
- Associated Variants
-
TSC2 p.Arg1743Gln (p.R1743Q)
(
ENST00000350773.9,
ENST00000219476.9,
ENST00000382538.10,
ENST00000568454.6,
ENST00000439673.6,
ENST00000401874.7,
ENST00000645186.2,
ENST00000642561.1,
ENST00000646388.1,
ENST00000642206.2,
ENST00000642365.2,
ENST00000642797.1,
ENST00000642936.1,
ENST00000643088.1,
ENST00000643946.1,
ENST00000644043.1,
ENST00000644329.1,
ENST00000644335.1 )
TSC2 p.Arg1743Gln (p.R1743Q) ( ENST00000645186.2, 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, ENST00000646388.1 ) - Associated Disease
- Tuberous sclerosis syndrome
- Source Database
- ClinVar
- Description
- NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) AND Tuberous sclerosis syndrome
- ClinVar Allele ID
- 59122
- ClinVar RefSeq Alternation Syntax
- NM_001370405.1:c.5087G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318832.2:c.5060G>A
- ClinVar RefSeq Alternation Syntax
- NM_021055.3:c.5099G>A
- ClinVar RefSeq Alternation Syntax
- NM_000548.5:c.5228G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318831.2:c.4496G>A
- ClinVar RefSeq Alternation Syntax
- NM_001114382.3:c.5159G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318827.2:c.4919G>A
- ClinVar RefSeq Alternation Syntax
- NM_001077183.3:c.5027G>A
- ClinVar RefSeq Alternation Syntax
- NM_001318829.2:c.4883G>A
- ClinVar RefSeq Alternation Syntax
- NM_001370404.1:c.5096G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363528.2:c.5030G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000043227
- ClinVar Disease
- Tuberous sclerosis syndrome
- Observed Origin Sample
- germline
Drugs