Variant (rsID / SNP)

rs121909087

rs121909087 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,519,662. Clinical significance in the table: Pathogenic.

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Reference-table entries

ROR2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:94519662
Cytoband: 9q22.31
HGVS: NM_004560.4(ROR2):c.355C>T (p.Arg119Ter)
Allele change: Nonsense_R119X

Associated conditions / phenotypes

Autosomal recessive Robinow syndrome

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.