rs144458991

This is a variant in the KMT5B gene that changes a asparagine to an serine.

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

Inborn genetic diseases; KMT5B-related disorder

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.

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