V12= variant of ADA (Adenosine deaminase)
V12= in ADA (Adenosine deaminase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data, published literature, and structural context.
V12= variant details
- rs394105
- ClinVar RCV000590787
- ClinVar RCV001082526
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: Adenosine Deaminase Deficiency. (PMID 20301656)