rs886037841

This is a stop gained variant in the TNIK gene.

▶

ClinVar annotation

Pathogenic★☆☆☆
2 submitters2 publications

Intellectual disability, autosomal recessive 54 (MRT54)

View on ClinVar →

About TNIK

Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]

View all TNIK 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…