EFNB1 Chromosome X
Ephrin B1
Upload your DNA to see your personal genotypes for variants in EFNB1.
What This Gene Does
The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ephrins
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000090776
Associated Conditions (4)
Craniofrontonasal syndrome
Inborn genetic diseases
EFNB1-related disorder
Nonpapillary renal cell carcinoma
Key Variants
RS1057519034
Conflicting classifications of pathogenicity
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS1556106222
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556106318
Conflicting classifications of pathogenicity
Health Risk
RS2080439797
Conflicting classifications of pathogenicity
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS2147976542
Conflicting classifications of pathogenicity
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS2519538222
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519033
Likely pathogenic
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS1482772814
Likely pathogenic
EFNB1-related disorder, EFNB1-related disorder
Health Risk
RS1556105849
Likely pathogenic
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS1556107856
Likely pathogenic
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS1602671282
Likely pathogenic
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
RS2080439314
Likely pathogenic
Craniofrontonasal syndrome, Craniofrontonasal syndrome
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS28936071 | Health Risk | Pathogenic | Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS587777109 | Health Risk | Pathogenic | Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS750035783 | Health Risk | Pathogenic | — |
| RS781514536 | Health Risk | Pathogenic | — |
| RS886041800 | Health Risk | Pathogenic | — |
| RS886041811 | Health Risk | Pathogenic | — |
| RS1556107481 | Health Risk | Pathogenic/Likely pathogenic | Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS879255545 | Health Risk | Pathogenic/Likely pathogenic | Craniofrontonasal syndrome, Craniofrontonasal syndrome |