Annotation Detail

Information
Associated Genes
KIF6
Associated Variants
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
KIF6 p.Trp719Arg (p.W719R) ( ENST00000229913.9, ENST00000287152.12, ENST00000394362.5, ENST00000538893.5 )
Source Database
ClinVar
Description
NM_145027.6(KIF6):c.2155T>C (p.Trp719Arg) AND pravastatin response - Efficacy
ClinVar Allele ID
227759
ClinVar RefSeq Alternation Syntax
NM_145027.6:c.2155T>C
ClinVar RefSeq Alternation Syntax
NM_001351566.2:c.508T>C
ClinVar RefSeq Alternation Syntax
NM_001289021.3:c.1987T>C
ClinVar RefSeq Alternation Syntax
NM_001289024.3:c.508T>C
ClinVar RefSeq Alternation Syntax
NM_001289020.3:c.2104T>C
Clinical Significance Description
drug response
Clinical Significance Last Update
2021-03-24
Clinical Significance Review Status
reviewed by expert panel
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001787697
Observed Origin Sample
germline
Drugs