Variant (rsID / SNP)

rs147543583

rs147543583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,421,320. 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: 2:220421320
Cytoband: 2q35
HGVS: NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile)
Allele change: Missense_V1398I

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.