RBM10 Chromosome X
RNA binding motif protein 10
Upload your DNA to see your personal genotypes for variants in RBM10.
What This Gene Does
This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Zinc fingers RANBP2-type|G-patch domain containing|RNA binding motif containing|Spliceosomal A complex"
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000182872
Associated Conditions (8)
Inborn genetic diseases
Hearing impairment
TARP syndrome
RBM10-related disorder
Malignant tumor of urinary bladder
Nonpapillary renal cell carcinoma
Nephroblastoma
Neurodevelopmental delay
Key Variants
RS1180874041
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS137940243
Conflicting classifications of pathogenicity
Health Risk
RS140296609
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1447246696
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149109733
Conflicting classifications of pathogenicity
Health Risk
RS781998738
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782227221
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782440714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hearing impairment, Inborn genetic diseases
Health Risk
RS1064795088
Likely pathogenic
Health Risk
RS1556782020
Likely pathogenic
TARP syndrome, TARP syndrome
Health Risk
RS1556782770
Likely pathogenic
Health Risk
RS1602556716
Likely pathogenic
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1180874041 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS137940243 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140296609 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1447246696 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149109733 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781998738 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782227221 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782440714 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hearing impairment, Inborn genetic diseases |
| RS1064795088 | Health Risk | Likely pathogenic | — |
| RS1556782020 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS1556782770 | Health Risk | Likely pathogenic | — |
| RS1602556716 | Health Risk | Likely pathogenic | — |
| RS1934470534 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS1934631873 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS1934642808 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS1935843757 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS2147169894 | Health Risk | Likely pathogenic | — |
| RS2147209967 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS2147211835 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS2147220533 | Health Risk | Likely pathogenic | RBM10-related disorder, Malignant tumor of urinary bladder, Nonpapillary renal cell carcinoma |
| RS2147224076 | Health Risk | Likely pathogenic | — |
| RS2521230309 | Health Risk | Likely pathogenic | — |
| RS781920661 | Health Risk | Likely pathogenic | TARP syndrome, TARP syndrome |
| RS1131690789 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1131691421 | Health Risk | Pathogenic | Nephroblastoma, Nephroblastoma |
| RS1556770954 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS1556772860 | Health Risk | Pathogenic | Neurodevelopmental delay, TARP syndrome, Neurodevelopmental delay |
| RS1556778986 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS1556779417 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1602582207 | Health Risk | Pathogenic | — |
| RS1602582334 | Health Risk | Pathogenic | TARP syndrome, Nonpapillary renal cell carcinoma, TARP syndrome |
| RS1935600115 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS1935810876 | Health Risk | Pathogenic | — |
| RS2147136759 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS2147225679 | Health Risk | Pathogenic | — |
| RS2520715667 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS2521133928 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS267607000 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS375207660 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS886041461 | Health Risk | Pathogenic | — |
| RS886041742 | Health Risk | Pathogenic | — |
| RS886044715 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |
| RS886044718 | Health Risk | Pathogenic | TARP syndrome, TARP syndrome |