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Variant (rsID / SNP)

rs144549032

ROR2

rs144549032 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,486,817. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ROR2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:94486817
Cytoband
9q22.31
HGVS
NM_004560.4(ROR2):c.1959G>A (p.Leu653=)
Allele change
Synonymous_L653L

Associated conditions / phenotypes

Autosomal recessive Robinow syndrome|Brachydactyly type B1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.