Annotation Detail
Information
- Associated Genes
- AFF1
- Associated Variants
-
AFF1 p.Pro532Ser (p.P532S)
(
ENST00000307808.10,
ENST00000395146.9,
ENST00000544085.6 )
AFF1 p.Pro532Ser (p.P532S) ( ENST00000307808.10, ENST00000395146.9, ENST00000544085.6 ) - Associated Disease
- teratoma
- Source Database
- ClinVar
- Description
- NM_001166693.3(AFF1):c.1594C>T (p.Pro532Ser) AND Teratoma
- ClinVar Allele ID
- 2473347
- ClinVar RefSeq Alternation Syntax
- NM_001313959.2:c.1573C>T
- ClinVar RefSeq Alternation Syntax
- NM_001313960.2:c.487C>T
- ClinVar RefSeq Alternation Syntax
- NM_005935.4:c.1573C>T
- ClinVar RefSeq Alternation Syntax
- NM_001166693.3:c.1594C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003221390
- ClinVar Disease
- Teratoma
- Observed Origin Sample
- somatic
Drugs