STRs database » NUTM2B-AS1 locus
Gene NUTM2B-AS1
Location Noncoding transcript in 10q22.3
Reference region chr10:79826377-79826403 (hg38)
chr10:81586133-81586159 (hg19)
chr10:80695712-80695747 (hs1)
Repeat unit CGG
Repeat type Standard
Distribution of repeats in a superpopulation
→ View repeat distributions in gnomAD database
Overview of repeats

A disease named oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1) has been described by Ishiura and colleagues in 2019 which was characterised in one family. Expansion of CCG repeats was observed in the NUTM2B-AS1 gene that is transcribed bidirectionally (in CGG direction) in the noncoding RNA LOC642361 gene. In one out of four patients, the expanded allele was determined to be 2.1 kb which corresponds to 700 trinucleotide repeats. In controls the repeat range was between 3 to 16 repeats (Ishiura et al., 2019).

→ View STRipy's population-wide repeat data for NUTM2B-AS1 locus

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Oculopharyngeal myopathy with leukoencephalopathy 1 (OPML1) Adult Autosomal dominant 3-16 - ≥700