Annotation Detail
Information
- Associated Genes
- RIGI LOC130001628
- Associated Variants
-
ENSG00000288684 c.-45+24626C>T, RIGI p.Arg7Cys (p.R7C)
(
ENST00000379883.3,
ENST00000679859.1,
ENST00000715270.1,
ENST00000715271.1 )
ENSG00000288684 c.-45+24626C>T, RIGI p.Arg7Cys (p.R7C) ( ENST00000379883.3, ENST00000679859.1, ENST00000715270.1, ENST00000715271.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_014314.4(RIGI):c.19C>T (p.Arg7Cys) AND not provided
- ClinVar Allele ID
- 1156196
- ClinVar RefSeq Alternation Syntax
- NM_001385913.1:c.19C>T
- ClinVar RefSeq Alternation Syntax
- NM_001385910.1:c.-436C>T
- ClinVar RefSeq Alternation Syntax
- NM_001385914.1:c.-436C>T
- ClinVar RefSeq Alternation Syntax
- NM_001385909.1:c.19C>T
- ClinVar RefSeq Alternation Syntax
- NM_001385912.1:c.-443C>T
- ClinVar RefSeq Alternation Syntax
- NM_001385907.1:c.19C>T
- ClinVar RefSeq Alternation Syntax
- NM_014314.4:c.19C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001522554
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs