Annotation Detail
Information
- Associated Genes
- DDC
- Associated Variants
-
DDC c.570+42G>A
(
ENST00000357936.9,
ENST00000380984.4,
ENST00000426377.5,
ENST00000431062.5,
ENST00000444124.7,
ENST00000615193.4,
ENST00000617822.4,
ENST00000622873.4 )
DDC c.570+42G>A ( ENST00000357936.9, ENST00000380984.4, ENST00000426377.5, ENST00000431062.5, ENST00000444124.7, ENST00000615193.4, ENST00000617822.4, ENST00000622873.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001082971.2(DDC):c.570+42G>A AND not provided
- ClinVar Allele ID
- 1247567
- ClinVar RefSeq Alternation Syntax
- NM_001242887.2:c.570+42G>A
- ClinVar RefSeq Alternation Syntax
- NM_001242889.2:c.435+8694G>A
- ClinVar RefSeq Alternation Syntax
- NM_001082971.2:c.570+42G>A
- ClinVar RefSeq Alternation Syntax
- NM_001242888.2:c.336+42G>A
- ClinVar RefSeq Alternation Syntax
- NM_001242890.2:c.570+42G>A
- ClinVar RefSeq Alternation Syntax
- NM_001242886.2:c.456+42G>A
- ClinVar RefSeq Alternation Syntax
- NM_000790.4:c.570+42G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-03-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001673393
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs