Variant (rsID / SNP)

rs181520135

rs181520135 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,417,364. Clinical significance in the table: Benign.

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Reference-table entries

OBSL1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:220417364
Cytoband: 2q35
HGVS: NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu)
Allele change: Missense_D1734E

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.