Variant (rsID / SNP)

rs587777067

rs587777067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DDX59. Location: chromosome 1, position 200,619,767. Clinical significance in the table: Pathogenic.

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Reference-table entries

DDX59Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:200619767
Cytoband: 1q32.1
HGVS: NM_001031725.6(DDX59):c.1100T>G (p.Val367Gly)
Allele change: Missense_V367G

Associated conditions / phenotypes

Orofaciodigital syndrome V

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.