Annotation Detail
Information
- Associated Genes
- IL17RD
- Associated Variants
-
IL17RD p.Thr255Met (p.T255M)
(
ENST00000296318.12,
ENST00000320057.9,
ENST00000463523.5 )
IL17RD p.Thr255Met (p.T255M) ( ENST00000296318.12, ENST00000320057.9, ENST00000463523.5 ) - Associated Disease
- hypogonadotropic hypogonadism 18 with or without anosmia
- Source Database
- ClinVar
- Description
- NM_017563.5(IL17RD):c.764C>T (p.Thr255Met) AND Hypogonadotropic hypogonadism 18 with or without anosmia
- ClinVar Allele ID
- 1171157
- ClinVar RefSeq Alternation Syntax
- NM_001318864.2:c.332C>T
- ClinVar RefSeq Alternation Syntax
- NM_017563.5:c.764C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001730832
- ClinVar Disease
- Hypogonadotropic hypogonadism 18 with or without anosmia
- Observed Origin Sample
- germline
Drugs