Variant (rsID / SNP)

rs762334954

rs762334954 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,432,785. Clinical significance in the table: Pathogenic.

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Reference-table entries

OBSL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 2:220432785
Cytoband: 2q35
HGVS: NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)

Associated conditions / phenotypes

3M syndrome 2

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.