Variant (rsID / SNP)

rs104894872

rs104894872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDP. Clinical significance in the table: Pathogenic.

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Reference-table entries

NDPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_000266.4(NDP):c.206G>C (p.Cys69Ser)
Allele change: Missense_C69S

Associated conditions / phenotypes

Atrophia bulborum hereditaria

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.