rs1957081691

This variant is located in the EEF2KMT gene.

ClinVar annotation

Benign☆☆☆
1 submitter1 publication

ALG1-congenital disorder of glycosylation

View on ClinVar →

About EEF2KMT

Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in cytoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

View all EEF2KMT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…