Variant (rsID / SNP)

rs104894800

rs104894800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EBP. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EBPPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
Allele change: Missense_E80K

Associated conditions / phenotypes

Chondrodysplasia punctata 2 X-linked dominant|Connective tissue disorder

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.