E26Q (p.Glu26Gln) variant of ALMS1 (Q8TCU4)
E26Q (p.Glu26Gln) in ALMS1 (Q8TCU4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alstrom syndrome. The record also includes published literature.
E26Q (p.Glu26Gln) variant details
- p.Glu26Gln
- rs2465970539
- ClinGen CA347250556
- ClinVar RCV002633307
- Uncertain significance
- Alstrom syndrome
- Missense
- ClinVar: Uncertain significance (Alstrom syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Alström Syndrome. (PMID 20301444)
- Cited in: Clinical utility gene card for: Alström syndrome. (PMID 21522186)