Variant (rsID / SNP)

rs869025218

rs869025218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DVL3. Location: chromosome 3, position 183,888,108. Clinical significance in the table: Pathogenic.

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Reference-table entries

DVL3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:183888108
Cytoband: 3q27.1
HGVS: NM_004423.4(DVL3):c.1716del (p.Ser573fs)

Associated conditions / phenotypes

Autosomal dominant Robinow syndrome 1|Autosomal dominant Robinow syndrome 3

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.