Variant (rsID / SNP)

rs61744585

rs61744585 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 139,990,813. Clinical significance in the table: Benign.

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Reference-table entries

MAN1B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:139990813
Cytoband: 9q34.3
HGVS: NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
Allele change: Missense_P197L

Associated conditions / phenotypes

Rafiq syndrome|History of neurodevelopmental disorder

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.