SCAF4 Chromosome 21
SR-related CTD associated factor 4
Upload your DNA to see your personal genotypes for variants in SCAF4.
What This Gene Does
This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000156304
Associated Conditions (10)
Inborn genetic diseases
Fliedner-Zweier syndrome
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
SCAF4-related disorder
SCAF4-associated mental retardation
Intellectual disability
Complex neurodevelopmental disorder
Rare syndromic intellectual disability
Abnormality of the kidney
Multicystic kidney dysplasia
Key Variants
RS748174835
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2050087993
Likely pathogenic
Health Risk
RS2516724533
Likely pathogenic
Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
Health Risk
RS2516760898
Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Health Risk
RS2516777715
Likely pathogenic
SCAF4-related disorder, SCAF4-related disorder
Health Risk
RS2516779304
Likely pathogenic
SCAF4-related disorder, SCAF4-related disorder
Health Risk
RS2516811028
Likely pathogenic
Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
Health Risk
RS2516811789
Likely pathogenic
Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
Health Risk
RS2516811898
Likely pathogenic
Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
Health Risk
RS770737101
Likely pathogenic
SCAF4-related disorder, SCAF4-related disorder
Health Risk
RS775432821
Likely pathogenic
Health Risk
RS2050182643
Pathogenic
Fliedner-Zweier syndrome, Fliedner-Zweier syndrome
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS748174835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2050087993 | Health Risk | Likely pathogenic | — |
| RS2516724533 | Health Risk | Likely pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2516760898 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2516777715 | Health Risk | Likely pathogenic | SCAF4-related disorder, SCAF4-related disorder |
| RS2516779304 | Health Risk | Likely pathogenic | SCAF4-related disorder, SCAF4-related disorder |
| RS2516811028 | Health Risk | Likely pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2516811789 | Health Risk | Likely pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2516811898 | Health Risk | Likely pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS770737101 | Health Risk | Likely pathogenic | SCAF4-related disorder, SCAF4-related disorder |
| RS775432821 | Health Risk | Likely pathogenic | — |
| RS2050182643 | Health Risk | Pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2050278981 | Health Risk | Pathogenic | — |
| RS2050305726 | Health Risk | Pathogenic | — |
| RS2050538888 | Health Risk | Pathogenic | SCAF4-associated mental retardation, SCAF4-associated mental retardation |
| RS2050589119 | Health Risk | Pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2123538435 | Health Risk | Pathogenic | — |
| RS2123557653 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2123578933 | Health Risk | Pathogenic | Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS2123586296 | Health Risk | Pathogenic | Rare syndromic intellectual disability, Fliedner-Zweier syndrome, Rare syndromic intellectual disability |
| RS2516753687 | Health Risk | Pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |
| RS2516753785 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2516765465 | Health Risk | Pathogenic | Abnormality of the kidney, Multicystic kidney dysplasia, Abnormality of the kidney |
| RS2516768659 | Health Risk | Pathogenic | — |
| RS2516774500 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2516779125 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS868454222 | Health Risk | Pathogenic | Inborn genetic diseases, Fliedner-Zweier syndrome, Inborn genetic diseases |
| RS2516760777 | Health Risk | Pathogenic/Likely pathogenic | Fliedner-Zweier syndrome, Fliedner-Zweier syndrome |