FRAS1 Chromosome 4
Fraser extracellular matrix complex subunit 1
Upload your DNA to see your personal genotypes for variants in FRAS1.
What This Gene Does
This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Associated Conditions (15)
Inborn genetic diseases
FRAS1-related disorder
Fraser syndrome 1
Microcephaly
Rieger anomaly
Anophthalmia-microphthalmia syndrome
Congenital anomaly of kidney and urinary tract
Cryptophthalmos syndrome
Clear cell carcinoma of kidney
Orofacial cleft 1
Ovarian serous cystadenocarcinoma
Renal agenesis
Thyroid cancer
nonmedullary
1
Key Variants
RS10029227
Conflicting classifications of pathogenicity
Inborn genetic diseases, FRAS1-related disorder, Inborn genetic diseases
Health Risk
RS1027609786
Conflicting classifications of pathogenicity
Health Risk
RS111554790
Conflicting classifications of pathogenicity
Fraser syndrome 1, FRAS1-related disorder, Fraser syndrome 1
Health Risk
RS112039037
Conflicting classifications of pathogenicity
Fraser syndrome 1, FRAS1-related disorder, Fraser syndrome 1
Health Risk
RS113732809
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fraser syndrome 1, Inborn genetic diseases
Health Risk
RS115496853
Conflicting classifications of pathogenicity
FRAS1-related disorder, Inborn genetic diseases, FRAS1-related disorder
Health Risk
RS116378993
Conflicting classifications of pathogenicity
Fraser syndrome 1, Inborn genetic diseases, FRAS1-related disorder
Health Risk
RS117838818
Conflicting classifications of pathogenicity
Fraser syndrome 1, Microcephaly, FRAS1-related disorder
Health Risk
RS117925872
Conflicting classifications of pathogenicity
Fraser syndrome 1, Fraser syndrome 1
Health Risk
RS1363836483
Conflicting classifications of pathogenicity
Fraser syndrome 1, Fraser syndrome 1
Health Risk
RS137923783
Conflicting classifications of pathogenicity
Fraser syndrome 1, Fraser syndrome 1
Health Risk
RS139412411
Conflicting classifications of pathogenicity
Fraser syndrome 1, Fraser syndrome 1
Health Risk
All Variants (411)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1727403682 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1731162235 | Health Risk | Likely pathogenic | — |
| RS1731436153 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1732274672 | Health Risk | Likely pathogenic | — |
| RS1733919437 | Health Risk | Likely pathogenic | — |
| RS1739558635 | Health Risk | Likely pathogenic | — |
| RS181224126 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS200282443 | Health Risk | Likely pathogenic | Fraser syndrome 1, Congenital anomaly of kidney and urinary tract, Fraser syndrome 1 |
| RS2109834757 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS2109850407 | Health Risk | Likely pathogenic | — |
| RS2110325478 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS2475847495 | Health Risk | Likely pathogenic | — |
| RS2475851664 | Health Risk | Likely pathogenic | FRAS1-related disorder, FRAS1-related disorder |
| RS2476499461 | Health Risk | Likely pathogenic | — |
| RS2476513684 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS2476513919 | Health Risk | Likely pathogenic | — |
| RS2476518716 | Health Risk | Likely pathogenic | — |
| RS2476575208 | Health Risk | Likely pathogenic | — |
| RS2476965820 | Health Risk | Likely pathogenic | Fraser syndrome 1, Ovarian serous cystadenocarcinoma, Fraser syndrome 1 |
| RS2477113430 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS2477143504 | Health Risk | Likely pathogenic | — |
| RS2477149824 | Health Risk | Likely pathogenic | — |
| RS2477182856 | Health Risk | Likely pathogenic | — |
| RS2477224722 | Health Risk | Likely pathogenic | — |
| RS2477230696 | Health Risk | Likely pathogenic | — |
| RS2477236844 | Health Risk | Likely pathogenic | — |
| RS2477269322 | Health Risk | Likely pathogenic | FRAS1-related disorder, Fraser syndrome 1, FRAS1-related disorder |
| RS2477286570 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS762051177 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS765291607 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS773232259 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS776789412 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS876661304 | Health Risk | Likely pathogenic | — |
| RS922875803 | Health Risk | Likely pathogenic | — |
| RS936338537 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS944626522 | Health Risk | Likely pathogenic | — |
| RS983073692 | Health Risk | Likely pathogenic | — |
| RS1006839535 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1010431551 | Health Risk | Pathogenic | — |
| RS1131691572 | Health Risk | Pathogenic | — |
| RS1179931234 | Health Risk | Pathogenic | — |
| RS120074156 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS120074157 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS120074158 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS120074159 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1219344385 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1224934895 | Health Risk | Pathogenic | — |
| RS1225338975 | Health Risk | Pathogenic | — |
| RS1227013948 | Health Risk | Pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1236188218 | Health Risk | Pathogenic | — |