S698N (p.Ser698Asn) variant of NTRK1 (P04629)
S698N (p.Ser698Asn) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The record also includes structural context.
S698N (p.Ser698Asn) variant details
- p.Ser698Asn
- Ensembl rs2102927307
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- UniProt: Likely pathogenic
- Structural context available