G1310D (p.Gly1310Asp) variant of FBN1 (Fibrillin-1)
G1310D (p.Gly1310Asp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Marfan syndrome; not provided.
G1310D (p.Gly1310Asp) variant details
- p.Gly1310Asp
- NCI-TCGA Cosmic COSV5730
- Likely pathogenic
- Marfan syndrome; not provided
- Missense
- ClinVar: Likely pathogenic (Marfan syndrome; not provided)
- UniProt: Likely pathogenic