Variant (rsID / SNP)

rs56231927

rs56231927 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,486,564. 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: 9:94486564
Cytoband: 9q22.31
HGVS: NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)
Allele change: Missense_R738C

Associated conditions / phenotypes

Autosomal recessive Robinow syndrome|Brachydactyly type B1|Short stature

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.