Variant (rsID / SNP)

rs75639549

rs75639549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 140,000,751. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MAN1B1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:140000751
Cytoband: 9q34.3
HGVS: NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg)
Allele change: Missense_G477R

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.