H55R (p.His55Arg) variant of ABCA4 (P78363)
H55R (p.His55Arg) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- rs2524008173
- ClinGen CA341285638
- ClinVar RCV002634305
- UniProt VAR 084837
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CORD3)
- UniProt: Pathogenic (in CORD3)
- Structural context available
- Cited in: Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel… (PMID 26780318)
- Cited in: An analysis of ABCR mutations in British patients with recessive retinal dystrophies. (PMID 10634594)