FAM50A Chromosome X
Family with sequence similarity 50 member A
Upload your DNA to see your personal genotypes for variants in FAM50A.
What This Gene Does
This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Spliceosomal C complex|Spliceosomal P complex|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000071859
Associated Conditions (3)
Armfield syndrome
Intellectual disability
Inborn genetic diseases
Key Variants
RS2523042827
Conflicting classifications of pathogenicity
Armfield syndrome, Armfield syndrome
Health Risk
RS2068797150
Likely pathogenic
Armfield syndrome, Armfield syndrome
Health Risk
RS2068797171
Likely pathogenic
Armfield syndrome, Armfield syndrome
Health Risk
RS2068797192
Likely pathogenic
Intellectual disability, Armfield syndrome, Intellectual disability
Health Risk
RS2523043957
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2523042827 | Health Risk | Conflicting classifications of pathogenicity | Armfield syndrome, Armfield syndrome |
| RS2068797150 | Health Risk | Likely pathogenic | Armfield syndrome, Armfield syndrome |
| RS2068797171 | Health Risk | Likely pathogenic | Armfield syndrome, Armfield syndrome |
| RS2068797192 | Health Risk | Likely pathogenic | Intellectual disability, Armfield syndrome, Intellectual disability |
| RS2523043957 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |