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Variant (rsID / SNP)

rs114057640

MAN1B1

rs114057640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 139,994,211. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MAN1B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:139994211
Cytoband
9q34.3
HGVS
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
Allele change
Missense_R265H

Associated conditions / phenotypes

History of neurodevelopmental disorder|Rafiq syndrome|Intellectual disability

Public references

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