Variant (rsID / SNP)

rs143028540

rs143028540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,243,509. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MBD5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:149243509
Cytoband: 2q23.1
HGVS: NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)
Allele change: Missense_Q1015R

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.