Variant (rsID / SNP)
rs34491822
rs34491822 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,486,491. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ROR2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:94486491
- Cytoband
- 9q22.31
- HGVS
- NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
- Allele change
- Missense_S762L
Associated conditions / phenotypes
Brachydactyly, type B1Robinow syndrome, autosomal recessive|Brachydactyly type B1|Autosomal recessive Robinow syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.