Variant (rsID / SNP)

rs28935497

rs28935497 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGD1. Clinical significance in the table: Pathogenic.

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Reference-table entries

FGD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)
Allele change: Missense_R610Q

Associated conditions / phenotypes

Aarskog 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.