Annotation Detail
Information
- Associated Genes
- CD46
- Associated Variants
-
CD46 c.674-312G>T
(
ENST00000358170.6,
ENST00000695782.1,
ENST00000360212.6,
ENST00000367047.5,
ENST00000354848.5,
ENST00000367042.6,
ENST00000322875.8,
ENST00000695777.1,
ENST00000367041.5,
ENST00000480003.5,
ENST00000322918.9,
ENST00000695780.1,
ENST00000357714.5 )
CD46 c.674-312G>T ( ENST00000322875.8, ENST00000322918.9, ENST00000354848.5, ENST00000357714.5, ENST00000358170.6, ENST00000360212.6, ENST00000367041.5, ENST00000367042.6, ENST00000367047.5, ENST00000480003.5, ENST00000695777.1, ENST00000695780.1, ENST00000695782.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_172351.3(CD46):c.674-312G>T AND not provided
- ClinVar Allele ID
- 1272864
- ClinVar RefSeq Alternation Syntax
- NM_172352.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_002389.4:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_153826.4:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172358.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172357.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172359.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172361.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172355.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172356.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172350.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172351.3:c.674-312G>T
- ClinVar RefSeq Alternation Syntax
- NM_172353.3:c.674-312G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001688787
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs