S24F (p.Ser24Phe) variant of ASH1L (Q9NR48)
S24F (p.Ser24Phe) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 52.
S24F (p.Ser24Phe) variant details
- p.Ser24Phe
- rs2524745304
- ClinGen CA342716592
- ClinVar RCV003141565
- NCI-TCGA TCGA novel
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance