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Variant (rsID / SNP)

rs536900412

MBD5

rs536900412 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,226,623. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MBD5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:149226623
Cytoband
2q23.1
HGVS
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)
Allele change
Missense_Q371E

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 1|Intellectual Disability, Dominant|History of neurodevelopmental disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.