Clinically relevant OGT variations

O-GlcNAc Transferase (OGT), encoded by the human OGT gene, is the sole enzyme responsible for adding O-GlcNAc modifications to proteins. Pathogenic variants in OGT have been linked to X-linked intellectual disability (XLID) and other congenital disorders. This page compiles clinically relevant single nucleotide variants of OGT, primarily sourced from ClinVar, with additional data from gnomAD, COSMIC, All of Us, GDC and Ensembl VEP.

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Classification ›

ClinVar classification:

 Pathogenic  Likely pathogenic  Uncertain significance  Likely benign  Benign

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AlphaMissense classification:

 Likely pathogenic  Ambiguous  Likely benign  Benign

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ClinPred classification:

 Likely pathogenic  Ambiguous  Likely benign  Benign

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Classification source:

ClinVar AlphaMissense ClinPred

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Frequency ›

Databases:

All Of Us 🌏 gnomAD 🌐 Alpha freq 👤 all

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None Allele count ↑ Allele count ↓

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Cancer ›

Databases:

COSMIC GDC 🦀 all

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Consequence ›

Variant consequence:

All Missense variant Synonymous variant Stop gained Stop lost Stop retained variant Frameshift variant Start lost Initiator codon variant Splice region variant Splice acceptor variant Splice donor variant Splice donor region variant Splice donor 5th base variant Splice polypyrimidine tract variant Intron variant 5′ UTR variant 3′ UTR variant Upstream gene variant

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Condition ›

ClinVar condition:

All Inborn genetic diseases Intellectual disability Intellectual disability, X-linked 106 OGT-related X-linked syndromic intellectual disability OGT-related disorder not specified

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Patient report:

All OGT-XLID

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Advanced search ›

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All Protein change DNA change mutation database

Select database ClinVar GnomAD COSMIC GDC dbSNP

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