Annotation Detail
Information
- Associated Genes
- KIF5A
- Associated Variants
-
KIF5A c.1717-152C>G
(
ENST00000455537.7,
ENST00000674619.1,
ENST00000286452.5,
ENST00000676457.1 )
KIF5A c.1717-152C>G ( ENST00000286452.5, ENST00000455537.7, ENST00000674619.1, ENST00000676457.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004984.4(KIF5A):c.1717-152C>G AND not provided
- ClinVar Allele ID
- 667180
- ClinVar RefSeq Alternation Syntax
- NM_004984.4:c.1717-152C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354705.2:c.1450-152C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000843016
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs