Variant (rsID / SNP)

rs200428790

rs200428790 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 140,002,934. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MAN1B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:140002934
Cytoband: 9q34.3
HGVS: NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
Allele change: Missense_T664M

Associated conditions / phenotypes

History of neurodevelopmental disorder|Rafiq syndrome

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.