Variant (rsID / SNP)

rs72957510

rs72957510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,422,686. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

OBSL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:220422686
Cytoband: 2q35
HGVS: NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys)
Allele change: Missense_E1217K

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.