RSRC1 Chromosome 3
Arginine and serine rich coiled-coil 1
Upload your DNA to see your personal genotypes for variants in RSRC1.
What This Gene Does
This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
Associated Conditions (3)
Intellectual developmental disorder
autosomal recessive 70
Inborn genetic diseases
Key Variants
RS2473655748
Likely pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
RS762779524
Likely pathogenic
Health Risk
RS1183090232
Pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
RS1335486803
Pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
RS1727334508
Pathogenic
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 70
Health Risk
RS2108279740
Pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
RS746219497
Pathogenic
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 70
Health Risk
RS754550509
Pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
RS868818936
Pathogenic
Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2473655748 | Health Risk | Likely pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |
| RS762779524 | Health Risk | Likely pathogenic | — |
| RS1183090232 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |
| RS1335486803 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |
| RS1727334508 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 70 |
| RS2108279740 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |
| RS746219497 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 70 |
| RS754550509 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |
| RS868818936 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 70, Intellectual developmental disorder |