Variant (rsID / SNP)

rs398124159

rs398124159 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FGD1. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FGD1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xp11.22
HGVS: NM_004463.3(FGD1):c.1564C>A (p.Arg522Ser)
Allele change: Missense_R522C

Associated conditions / phenotypes

Inborn genetic diseases

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.