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Variant (rsID / SNP)

rs142386294

ROR2

rs142386294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ROR2. Location: chromosome 9, position 94,487,020. 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
9:94487020
Cytoband
9q22.31
HGVS
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr)
Allele change
Missense_A586T

Associated conditions / phenotypes

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.