Variant (rsID / SNP)

rs529829552

rs529829552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,486,806. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ROR2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:94486806
Cytoband: 9q22.31
HGVS: NM_004560.4(ROR2):c.1970G>A (p.Arg657His)
Allele change: Missense_R657H

Associated conditions / phenotypes

Brachydactyly, type B1Robinow syndrome, autosomal recessive|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.