Annotation Detail
Information
- Associated Genes
- IL6R
- Associated Variants
-
IL6R c.997-320T>C
(
ENST00000344086.8,
ENST00000368485.8 )
IL6R c.997-320T>C ( ENST00000344086.8, ENST00000368485.8 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000565.4(IL6R):c.997-320T>C AND not provided
- ClinVar Allele ID
- 1153265
- ClinVar RefSeq Alternation Syntax
- NM_001382770.1:c.1090-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_000565.4:c.997-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382769.1:c.997-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382771.1:c.1045-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382773.1:c.1045-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382774.1:c.637-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_001382772.1:c.991-320T>C
- ClinVar RefSeq Alternation Syntax
- NM_181359.3:c.997-320T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001511512
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs