Variant (rsID / SNP)

rs794727928

rs794727928 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,221,431. Clinical significance in the table: Pathogenic.

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Reference-table entries

MBD5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:149221431
Cytoband: 2q23.1
HGVS: NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)

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.