Annotation Detail
Information
- Associated Genes
- RPS24 LOC130004144
- Associated Variants
-
RPS24 p.? (p.?)
(
ENST00000440692.6,
ENST00000464716.6,
ENST00000372360.9,
ENST00000435275.5,
ENST00000360830.9,
ENST00000613865.5,
ENST00000645440.1 )
RPS24 p.? (p.?) ( ENST00000440692.6, ENST00000372360.9, ENST00000360830.9, ENST00000435275.5, ENST00000464716.6, ENST00000613865.5, ENST00000645440.1 ) - Associated Disease
- Diamond-Blackfan anemia
- Source Database
- ClinVar
- Description
- NM_033022.4(RPS24):c.1A>G (p.Met1Val) AND Diamond-Blackfan anemia
- ClinVar Allele ID
- 259941
- ClinVar RefSeq Alternation Syntax
- NM_001026.5:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001142284.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001142283.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_033022.4:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001142282.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_001142285.2:c.1A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000551919
- ClinVar Disease
- Diamond-Blackfan anemia
- Observed Origin Sample
- germline
Drugs