M1I (p.Met1Ile) variant of SPTB (Spectrin beta chain, erythrocytic)
M1I (p.Met1Ile) in SPTB (Spectrin beta chain, erythrocytic) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2503302943
- ClinGen CA390038488
- ClinVar RCV003480085
- Conflicting interpretations
- not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- UniProt: Conflicting interpretations