M1L (p.Met1Leu) variant of KMT2A (Q03164)
M1L (p.Met1Leu) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wiedemann-Steiner syndrome. The record also includes published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2497095341
- ClinGen CA382796613
- ClinVar RCV003133899
- Uncertain significance
- Wiedemann-Steiner syndrome
- Missense
- ClinVar: Uncertain significance (Wiedemann-Steiner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Wiedemann-Steiner Syndrome. (PMID 35617449)