A18T (p.Ala18Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
A18T (p.Ala18Thr) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Hypertrophic cardiomyopathy. The record also includes structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- cosmic curated COSV51261
- Conflicting interpretations
- not provided; Hypertrophic cardiomyopathy
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypertrophic cardiomyopathy)
- UniProt: Conflicting interpretations
- Structural context available