Annotation Detail
Information
- Associated Genes
- ARID1B LOC115308161 LOC129997523
- Associated Variants
-
ARID1B p.Ala92Gly (p.A92G)
(
ENST00000346085.10,
ENST00000350026.11,
ENST00000414678.8,
ENST00000636930.2,
ENST00000637015.2 )
ARID1B p.Ala92Gly (p.A92G) ( ENST00000346085.10, ENST00000350026.11, ENST00000414678.8, ENST00000636930.2, ENST00000637015.2 ) - Associated Disease
- ARID1B-related disorder
- Source Database
- ClinVar
- Description
- NM_001374828.1(ARID1B):c.275C>G (p.Ala92Gly) AND ARID1B-related disorder
- ClinVar Allele ID
- 2796171
- ClinVar RefSeq Alternation Syntax
- NM_001374820.1:c.275C>G
- ClinVar RefSeq Alternation Syntax
- NM_017519.3:c.275C>G
- ClinVar RefSeq Alternation Syntax
- NM_001346813.1:c.26C>G
- ClinVar RefSeq Alternation Syntax
- NM_001374828.1:c.275C>G
- ClinVar RefSeq Alternation Syntax
- NM_020732.3:c.26C>G
- ClinVar RefSeq Alternation Syntax
- NM_001371656.1:c.275C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004529725
- ClinVar Disease
- ARID1B-related disorder
- Observed Origin Sample
- germline
Drugs