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Variant (rsID / SNP)

rs371221714

ROR2

rs371221714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,493,389. 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
9:94493389
Cytoband
9q22.31
HGVS
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)
Allele change
Missense_S329N

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.