Variant (rsID / SNP)

rs116131367

rs116131367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OBSL1. Location: chromosome 2, position 220,419,340. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

OBSL1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:220419340
Cytoband: 2q35
HGVS: NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
Allele change: Nonsense_Q1578X

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.