LARP7 Chromosome 4
La ribonucleoprotein 7, transcriptional regulator
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What This Gene Does
This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"La ribonucleoproteins|RNA binding motif containing|7SK snRNP complex"
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000174720
Associated Conditions (7)
Microcephalic primordial dwarfism
Alazami type
Inborn genetic diseases
Abnormal brain morphology
LARP7-related disorder
Intellectual disability
Epileptic encephalopathy
Key Variants
RS141178932
Conflicting classifications of pathogenicity
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
RS200393300
Conflicting classifications of pathogenicity
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
RS200831675
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2149262033
Conflicting classifications of pathogenicity
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
RS374867509
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755439936
Conflicting classifications of pathogenicity
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
RS1060499762
Likely pathogenic
Abnormal brain morphology, Microcephalic primordial dwarfism, Alazami type
Health Risk
RS1064795626
Likely pathogenic
Health Risk
RS1554011529
Likely pathogenic
Health Risk
RS1554013625
Likely pathogenic
Health Risk
RS1560929898
Likely pathogenic
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
RS1578580129
Likely pathogenic
Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2477797618 | Health Risk | Pathogenic | — |
| RS2477903099 | Health Risk | Pathogenic | — |
| RS746835434 | Health Risk | Pathogenic | — |
| RS752178257 | Health Risk | Pathogenic | Microcephalic primordial dwarfism, Alazami type, LARP7-related disorder |
| RS755380383 | Health Risk | Pathogenic | — |
| RS757874580 | Health Risk | Pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS763929099 | Health Risk | Pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS770122563 | Health Risk | Pathogenic | — |
| RS775430086 | Health Risk | Pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS778909076 | Health Risk | Pathogenic | Intellectual disability, Epileptic encephalopathy, Microcephalic primordial dwarfism |
| RS779380562 | Health Risk | Pathogenic | — |
| RS866288154 | Health Risk | Pathogenic | LARP7-related disorder, LARP7-related disorder |
| RS1085307746 | Health Risk | Pathogenic/Likely pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS1560923303 | Health Risk | Pathogenic/Likely pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS2477799301 | Health Risk | Pathogenic/Likely pathogenic | LARP7-related disorder, LARP7-related disorder |
| RS750946801 | Health Risk | Pathogenic/Likely pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS752648225 | Health Risk | Pathogenic/Likely pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |
| RS772451147 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS775657157 | Health Risk | Pathogenic/Likely pathogenic | Microcephalic primordial dwarfism, Alazami type, Microcephalic primordial dwarfism |