Annotation Detail
Information
- Associated Genes
- ARID1B
- Associated Variants
-
ARID1B p.Val1639Ile (p.V1639I)
(
ENST00000414678.8,
ENST00000346085.10,
ENST00000350026.11,
ENST00000635849.1,
ENST00000636930.2,
ENST00000637015.2,
ENST00000637810.1,
ENST00000637904.1 )
ARID1B p.Val1639Ile (p.V1639I) ( ENST00000346085.10, ENST00000350026.11, ENST00000414678.8, ENST00000635849.1, ENST00000636930.2, ENST00000637015.2, ENST00000637810.1, ENST00000637904.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001374828.1(ARID1B):c.4915G>A (p.Val1639Ile) AND not provided
- ClinVar Allele ID
- 1918517
- ClinVar RefSeq Alternation Syntax
- NM_001371656.1:c.4795G>A
- ClinVar RefSeq Alternation Syntax
- NM_001346813.1:c.4666G>A
- ClinVar RefSeq Alternation Syntax
- NM_001363725.2:c.2416G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374820.1:c.4795G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374828.1:c.4915G>A
- ClinVar RefSeq Alternation Syntax
- NM_020732.3:c.4546G>A
- ClinVar RefSeq Alternation Syntax
- NM_175863.2:c.4333G>A
- ClinVar RefSeq Alternation Syntax
- NM_017519.3:c.4756G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002636548
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs