Annotation Detail
Information
- Associated Genes
- IL6R
- Associated Variants
-
IL6R p.Asp358Ala (p.D358A)
(
ENST00000368485.8,
ENST00000344086.8 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala) AND not specified
- ClinVar Allele ID
- 29699
- ClinVar RefSeq Alternation Syntax
- NM_181359.3:c.1066+4514A>C
- ClinVar RefSeq Alternation Syntax
- NM_000565.4:c.1073A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003488341
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs