Annotation Detail
Information
- Associated Genes
- KLK3
- Associated Variants
-
KLK3 p.Leu132Ile (p.L132I)
(
ENST00000326003.7,
ENST00000360617.7,
ENST00000593997.5,
ENST00000595952.5,
ENST00000597483.5 )
KLK3 p.Leu132Ile (p.L132I) ( ENST00000326003.7, ENST00000360617.7, ENST00000593997.5, ENST00000595952.5, ENST00000597483.5 ) - Associated Disease
- KLK3-related disorder
- Source Database
- ClinVar
- Description
- NM_001648.2(KLK3):c.394C>A (p.Leu132Ile) AND KLK3-related disorder
- ClinVar Allele ID
- 3217214
- ClinVar RefSeq Alternation Syntax
- NM_001030048.1:c.265C>A
- ClinVar RefSeq Alternation Syntax
- NM_001030047.1:c.394C>A
- ClinVar RefSeq Alternation Syntax
- NM_001648.2:c.394C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-12-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003979304
- ClinVar Disease
- KLK3-related disorder
- Observed Origin Sample
- germline
Drugs