Variant (rsID / SNP)

rs374963946

rs374963946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAN1B1. Location: chromosome 9, position 140,002,007. 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: 9:140002007
Cytoband: 9q34.3
HGVS: NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
Allele change: Missense_R597W

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.