G577V (p.Gly577Val) variant of NTRK1 (P04629)
G577V (p.Gly577Val) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar and UniProt describe it as benign/likely benign in the context of not specified; not provided; Hereditary insensitivity to pain with anhidrosis. The record also includes structural context.
G577V (p.Gly577Val) variant details
- p.Gly577Val
- ExAC rs772137960
- gnomAD rs772137960
- Benign/Likely benign
- not specified; not provided; Hereditary insensitivity to pain with anhidrosis
- Missense
- ClinVar: Benign/Likely benign (not specified; not provided; Hereditary insensitivity to pain wi)
- UniProt: Likely benign (in CIPA)
- Structural context available