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NSUN5

Synonyms
NOL1, NOL1R, NSUN5A, WBSCR20, WBSCR20A, p120, p120(NOL1)
External resources
Summary
This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
11,196
Likely benign
1,776
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NSUN5 gene.

Phenotype class
Patients in 3billion (%)

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