rs2496190745

This variant is located in the KMT5B gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Intellectual disability, autosomal dominant 51

View on ClinVar →

About KMT5B

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

View all KMT5B 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…