Variant (rsID / SNP)

rs797045038

rs797045038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCAF17. Location: chromosome 2, position 172,305,305. Clinical significance in the table: Pathogenic.

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Reference-table entries

DCAF17Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 2:172305305
Cytoband: 2q31.1
HGVS: NM_025000.4(DCAF17):c.436del (p.Ala147fs)

Associated conditions / phenotypes

Woodhouse-Sakati syndrome

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.