Variant (rsID / SNP)

rs104894801

rs104894801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EFNB1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EFNB1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)
Allele change: Missense_P54L

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.