Annotation Detail
Information
- Associated Genes
- EXT2
- Associated Variants
-
EXT2 c.1693-500G>C
(
ENST00000395673.8,
ENST00000533608.7,
ENST00000358681.8,
ENST00000683000.1,
ENST00000343631.4,
ENST00000682359.1,
ENST00000682711.1,
ENST00000684533.1 )
EXT2 c.1693-500G>C ( ENST00000343631.4, ENST00000358681.8, ENST00000395673.8, ENST00000533608.7, ENST00000682359.1, ENST00000682711.1, ENST00000683000.1, ENST00000684533.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_207122.2(EXT2):c.1663-500G>C AND not specified
- ClinVar Allele ID
- 254168
- ClinVar RefSeq Alternation Syntax
- NM_001389628.1:c.1663-500G>C
- ClinVar RefSeq Alternation Syntax
- NM_207122.2:c.1663-500G>C
- ClinVar RefSeq Alternation Syntax
- NM_001178083.3:c.1693-500G>C
- ClinVar RefSeq Alternation Syntax
- NM_001389630.1:c.1663-500G>C
- ClinVar RefSeq Alternation Syntax
- NM_000401.3:c.1762-500G>C
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000242715
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs