Variant (rsID / SNP)

rs104894796

rs104894796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFNB1. Clinical significance in the table: Pathogenic.

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Reference-table entries

EFNB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile)
Allele change: Missense_T111I

Associated conditions / phenotypes

Craniofrontonasal 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.