Variant (rsID / SNP)

rs797044993

rs797044993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR73. Location: chromosome 15, position 85,196,904. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

WDR73Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:85196904
Cytoband: 15q25.2
HGVS: NM_032856.5(WDR73):c.68T>A (p.Leu23Gln)
Allele change: Silent

Associated conditions / phenotypes

Galloway-Mowat syndrome 1

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.