RDX Chromosome 11
Radixin
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What This Gene Does
Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
11q22.3
Ensembl
ENSG00000137710
Associated Conditions (6)
Autosomal recessive nonsyndromic hearing loss 24
RDX-related disorder
Gastric cancer
Inborn genetic diseases
Nonsyndromic genetic hearing loss
Rare genetic deafness
Key Variants
RS139953187
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS142161673
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS142773831
Conflicting classifications of pathogenicity
RDX-related disorder, RDX-related disorder
Health Risk
RS144543614
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, Gastric cancer, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS192239366
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS201031650
Conflicting classifications of pathogenicity
Health Risk
RS202177331
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS34471100
Conflicting classifications of pathogenicity
Health Risk
RS533107164
Conflicting classifications of pathogenicity
Health Risk
RS572843421
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS74983220
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24
Health Risk
RS751528863
Conflicting classifications of pathogenicity
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139953187 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS142161673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS142773831 | Health Risk | Conflicting classifications of pathogenicity | RDX-related disorder, RDX-related disorder |
| RS144543614 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, Gastric cancer, Autosomal recessive nonsyndromic hearing loss 24 |
| RS192239366 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24 |
| RS201031650 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202177331 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24 |
| RS34471100 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS533107164 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS572843421 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS74983220 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 24, RDX-related disorder, Autosomal recessive nonsyndromic hearing loss 24 |
| RS751528863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057520174 | Health Risk | Likely pathogenic | — |
| RS1308348441 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS2134364635 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS2539441210 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS756407279 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS772146113 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS893826250 | Health Risk | Likely pathogenic | — |
| RS1191259480 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS121918379 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS121918380 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS1372141763 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS1412883921 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS1463925107 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS1591158999 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS2134302220 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |
| RS2134363728 | Health Risk | Pathogenic | — |
| RS2539410522 | Health Risk | Pathogenic | — |
| RS2539414638 | Health Risk | Pathogenic | — |
| RS2539423213 | Health Risk | Pathogenic | — |
| RS727504709 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 24, Rare genetic deafness |
| RS779134450 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24 |