G17A (p.Gly17Ala) variant of HBB (Hemoglobin subunit beta)
G17A (p.Gly17Ala) in HBB (Hemoglobin subunit beta) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in D-Bushman. The record also includes structural context.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- NCI-TCGA Cosmic COSV1000
- Variant assessed as somatic; high impact.
- in D-Bushman
- Frameshift
- UniProt: Variant assessed as somatic; high impact. (in D-Bushman)
- Structural context available