Variant (rsID / SNP)

rs104894799

rs104894799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EBP. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EBPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_006579.3(EBP):c.187C>T (p.Arg63Ter)
Allele change: Nonsense_R63X

Associated conditions / phenotypes

Chondrodysplasia punctata 2 X-linked dominant

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.