FRMD7 Chromosome X
FERM domain containing 7
Upload your DNA to see your personal genotypes for variants in FRMD7.
What This Gene Does
Predicted to be involved in regulation of neuron projection development. Predicted to act upstream of or within negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; and positive regulation of small GTPase mediated signal transduction. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in congenital nystagmus 1. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
Xq26.2
Ensembl
ENSG00000165694
Associated Conditions (9)
Inborn genetic diseases
Nystagmus 1
congenital
X-linked
FRMD7-related disorder
Thyroid cancer
nonmedullary
1
Retinal dystrophy
Key Variants
RS1259890351
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137852212
Conflicting classifications of pathogenicity
Nystagmus 1, congenital, X-linked
Health Risk
RS139411571
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140383991
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143451711
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145552208
Conflicting classifications of pathogenicity
FRMD7-related disorder, Inborn genetic diseases, FRMD7-related disorder
Health Risk
RS149727630
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS185450880
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192346335
Conflicting classifications of pathogenicity
Nystagmus 1, congenital, X-linked
Health Risk
RS1927846857
Conflicting classifications of pathogenicity
Nystagmus 1, congenital, X-linked
Health Risk
RS199717232
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199857416
Conflicting classifications of pathogenicity
Nystagmus 1, congenital, X-linked
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1927850772 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS1928365871 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1928435502 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS1928436463 | Health Risk | Pathogenic | — |
| RS1928472916 | Health Risk | Pathogenic | — |
| RS1929191668 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS1929193313 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2124046017 | Health Risk | Pathogenic | — |
| RS2124046210 | Health Risk | Pathogenic | — |
| RS2124209414 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS2124221270 | Health Risk | Pathogenic | — |
| RS2124241061 | Health Risk | Pathogenic | — |
| RS2124241129 | Health Risk | Pathogenic | — |
| RS2520696464 | Health Risk | Pathogenic | — |
| RS2520696502 | Health Risk | Pathogenic | — |
| RS2520699165 | Health Risk | Pathogenic | — |
| RS2520754488 | Health Risk | Pathogenic | — |
| RS2520755303 | Health Risk | Pathogenic | — |
| RS2520841758 | Health Risk | Pathogenic | — |
| RS2520939412 | Health Risk | Pathogenic | — |
| RS387906720 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS387906721 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS786205896 | Health Risk | Pathogenic | Nystagmus 1, congenital, X-linked |
| RS886041507 | Health Risk | Pathogenic | — |
| RS1332489637 | Health Risk | Pathogenic/Likely pathogenic | Nystagmus 1, congenital, X-linked |
| RS137852211 | Health Risk | Pathogenic/Likely pathogenic | Nystagmus 1, congenital, X-linked |
| RS1429474154 | Health Risk | Pathogenic/Likely pathogenic | Nystagmus 1, congenital, X-linked |
| RS2124209063 | Health Risk | Pathogenic/Likely pathogenic | — |