Variant (rsID / SNP)

rs568826753

rs568826753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,226,308. 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: 2:149226308
Cytoband: 2q23.1
HGVS: NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)
Allele change: Missense_I266V

Associated conditions / phenotypes

Intellectual disability, autosomal dominant 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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