FRMPD4 Chromosome X
FERM and PDZ domain containing 4
Upload your DNA to see your personal genotypes for variants in FRMPD4.
What This Gene Does
This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
Gene Info
Gene Group
"PDZ domain containing|FERM domain containing"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000169933
Associated Conditions (11)
Intellectual disability
X-linked 104
Inborn genetic diseases
FRMPD4-related disorder
Autism
susceptibility to
X-linked 4
Neurodevelopmental delay
Thyroid cancer
nonmedullary
1
Key Variants
RS140515130
Conflicting classifications of pathogenicity
Health Risk
RS142025193
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 104, Inborn genetic diseases
Health Risk
RS143929343
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145722235
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146493613
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146534723
Conflicting classifications of pathogenicity
Inborn genetic diseases, FRMPD4-related disorder, Inborn genetic diseases
Health Risk
RS146907470
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151079505
Conflicting classifications of pathogenicity
Health Risk
RS200249861
Conflicting classifications of pathogenicity
Intellectual disability, X-linked 104, Intellectual disability
Health Risk
RS200947928
Conflicting classifications of pathogenicity
Health Risk
RS376545795
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, X-linked 104
Health Risk
RS41303149
Conflicting classifications of pathogenicity
Autism, susceptibility to, X-linked 4
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140515130 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142025193 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 104, Inborn genetic diseases |
| RS143929343 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145722235 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146493613 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146534723 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FRMPD4-related disorder, Inborn genetic diseases |
| RS146907470 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151079505 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200249861 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 104, Intellectual disability |
| RS200947928 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376545795 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, X-linked 104 |
| RS41303149 | Health Risk | Conflicting classifications of pathogenicity | Autism, susceptibility to, X-linked 4 |
| RS750615873 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759503727 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760597864 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765633648 | Health Risk | Conflicting classifications of pathogenicity | FRMPD4-related disorder, FRMPD4-related disorder |
| RS921183679 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked 104, Inborn genetic diseases |
| RS2041898606 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2041899970 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2147106503 | Health Risk | Likely pathogenic | — |
| RS2147144421 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2147174292 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2519751886 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2519807297 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2519857290 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2519859595 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2519860273 | Health Risk | Likely pathogenic | — |
| RS2519861850 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS886038209 | Health Risk | Likely pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS1569057837 | Health Risk | Pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS2060108128 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2519857115 | Health Risk | Pathogenic | — |
| RS2519860735 | Health Risk | Pathogenic | — |
| RS747574742 | Health Risk | Pathogenic | Intellectual disability, X-linked 104, Intellectual disability |
| RS886038208 | Health Risk | Pathogenic | Intellectual disability, X-linked 104, Intellectual disability |