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Variant (rsID / SNP)

rs61732788

OBSL1

rs61732788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,432,814. Clinical significance in the table: Benign.

Reference-table entries

OBSL1Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:220432814
Cytoband
2q35
HGVS
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=)
Allele change
Synonymous_R415R

Associated conditions / phenotypes

3M syndrome 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.