Variant (rsID / SNP)

rs104894953

rs104894953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to XK. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

XKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp21.1
HGVS: NM_021083.4(XK):c.941G>A (p.Trp314Ter)
Allele change: Nonsense_W314X

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.