Gene entry
MBD5
methyl-CpG binding domain protein 5
- Chromosome
- 2
- Cytoband
- 2q23.1
- Variants (rsID)
- 91
MBD5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q23.1). Its official name is “methyl-CpG binding domain protein 5”. The reference table lists 91 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs114314967Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1|History of neurodevelopmental disorder
- rs116207524Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 1
- rs140968376Benignsingle nucleotide variant
- rs143028540Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 1
- rs146020786Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1|History of neurodevelopmental disorder
- rs200151142Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs201668347Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs370173652Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs556768118Benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs145475623Conflicting interpretationssingle nucleotide variantMBD5 associated neurodevelopmental disorder|History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 1
- rs151204004Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal dominant 1
- rs199530726Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs34995577Conflicting interpretationssingle nucleotide variantMBD5 associated neurodevelopmental disorder|Intellectual disability, autosomal dominant 1|History of neurodevelopmental disorder
- rs373177231Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs536900412Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 1|Intellectual Disability, Dominant|History of neurodevelopmental disorder
- rs568826753Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs776228346Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs757922781Likely benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs768363712Likely benignsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs794727928PathogenicDeletionIntellectual disability, autosomal dominant 1
- rs796052719PathogenicMicrosatelliteIntellectual disability, autosomal dominant 1
- rs886041003Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 1
- rs114359726Uncertain significancesingle nucleotide variantIntellectual disability, autosomal dominant 1
Other listed variants
- rs4001
- rs940460
- rs1234399
- rs1234415
- rs1234428
- rs1543255
- rs1979038
- rs2103127
- rs2197582
- rs2382226
- rs6706461
- rs7605678
- rs10196996
- rs10199719
- rs10497026
- rs10928398
- rs11685710
- rs12466963
- rs12469593
- rs12997434
- rs13014173
- rs13026304
- rs13395717
- rs13403308
- rs13426269
- rs13427748
- rs16828609
- rs17276953
- rs17355620
- rs28657631
- rs34036000
- rs34805135
- rs41477845
- rs62183899
- rs71406011
- rs71413619
- rs72856342
- rs72859326
- rs72861116
- rs73003507
- rs74698289
- rs75176694
- rs75554728
- rs76316654
- rs77312209
- rs78873491
- rs79130018
- rs112184638
- rs112585685
- rs112969279
- rs114102696
- rs114223935
- rs114948942
- rs115117043
- rs115343392
- rs115508064
- rs115615999
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.