Annotation Detail
Information
- Associated Genes
- EXT2
- Associated Variants
-
EXT2 p.Tyr618Cys (p.Y618C)
(
ENST00000533608.7,
ENST00000395673.8,
ENST00000682359.1,
ENST00000343631.4,
ENST00000358681.8,
ENST00000683000.1,
ENST00000684533.1,
ENST00000682711.1 )
EXT2 p.Tyr618Cys (p.Y618C) ( ENST00000343631.4, ENST00000358681.8, ENST00000395673.8, ENST00000533608.7, ENST00000682359.1, ENST00000682711.1, ENST00000683000.1, ENST00000684533.1 ) - Associated Disease
- Exostoses, multiple, type 2
- Source Database
- ClinVar
- Description
- NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) AND Exostoses, multiple, type 2
- ClinVar Allele ID
- 626395
- ClinVar RefSeq Alternation Syntax
- NM_207122.2:c.1823A>G
- ClinVar RefSeq Alternation Syntax
- NM_000401.3:c.1922A>G
- ClinVar RefSeq Alternation Syntax
- NM_001178083.3:c.1853A>G
- ClinVar RefSeq Alternation Syntax
- NM_001389628.1:c.1823A>G
- ClinVar RefSeq Alternation Syntax
- NM_001389630.1:c.1823A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-03-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002535841
- ClinVar Disease
- Exostoses, multiple, type 2
- Observed Origin Sample
- germline
Drugs