Variant (rsID / SNP)

rs387906885

rs387906885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 139,996,059. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MAN1B1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:139996059
Cytoband: 9q34.3
HGVS: NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
Allele change: Missense_E397K

Associated conditions / phenotypes

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.