Variant (rsID / SNP)
rs61732788
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.
