Variant (rsID / SNP)

rs28933690

rs28933690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XK. Clinical significance in the table: Pathogenic.

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Reference-table entries

XKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_021083.4(XK):c.880T>C (p.Cys294Arg)
Allele change: Missense_C294R

Associated conditions / phenotypes

McLeod neuroacanthocytosis 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.