HNRNPR Chromosome 1
Heterogeneous nuclear ribonucleoprotein R
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What This Gene Does
This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000125944
Associated Conditions (2)
Inborn genetic diseases
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Key Variants
RS1553153365
Likely pathogenic
Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Inborn genetic diseases
Health Risk
RS2148301258
Likely pathogenic
Health Risk
RS2523611526
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Health Risk
RS2523616146
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Health Risk
RS35459559
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553153365 | Health Risk | Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Inborn genetic diseases |
| RS2148301258 | Health Risk | Likely pathogenic | — |
| RS2523611526 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities |
| RS2523616146 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities |
| RS35459559 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities |