Variant (rsID / SNP)

rs797044834

rs797044834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DVL1. Location: chromosome 1, position 1,273,479. Clinical significance in the table: Pathogenic.

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Reference-table entries

DVL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:1273479
Cytoband: 1p36.33
HGVS: NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)

Associated conditions / phenotypes

Autosomal dominant Robinow syndrome 2

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.