S1895C (p.Ser1895Cys) variant of ALMS1 (Q8TCU4)
S1895C (p.Ser1895Cys) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alstrom syndrome. The record also includes published literature.
S1895C (p.Ser1895Cys) variant details
- p.Ser1895Cys
- rs2103787360
- ClinGen CA347282964
- ClinVar RCV001376207
- Ensembl rs2103787360
- Likely pathogenic
- Alstrom syndrome
- Missense
- ClinVar: Likely pathogenic (Alstrom syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)