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Variant (rsID / SNP)

rs145475623

MBD5

rs145475623 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MBD5. Location: chromosome 2, position 149,247,043. 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
2:149247043
Cytoband
2q23.1
HGVS
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile)
Allele change
Missense_T1048I

Associated conditions / phenotypes

MBD5 associated neurodevelopmental disorder|History of neurodevelopmental disorder|Intellectual disability, autosomal dominant 1

Public references

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