NUP205 Chromosome 7
Nucleoporin 205
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What This Gene Does
This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Nucleoporins|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
7q33
Ensembl
ENSG00000155561
Associated Conditions (3)
NUP205-related disorder
Nephrotic syndrome
type 13
Key Variants
RS138776220
Conflicting classifications of pathogenicity
Health Risk
RS139076870
Conflicting classifications of pathogenicity
Health Risk
RS144797408
Conflicting classifications of pathogenicity
NUP205-related disorder, NUP205-related disorder
Health Risk
RS145569015
Conflicting classifications of pathogenicity
Health Risk
RS147336077
Conflicting classifications of pathogenicity
Health Risk
RS148613242
Conflicting classifications of pathogenicity
NUP205-related disorder, NUP205-related disorder
Health Risk
RS150542529
Conflicting classifications of pathogenicity
NUP205-related disorder, Nephrotic syndrome, type 13
Health Risk
RS78254699
Conflicting classifications of pathogenicity
NUP205-related disorder, NUP205-related disorder
Health Risk
RS1584675898
Likely pathogenic
Nephrotic syndrome, type 13, Nephrotic syndrome
Health Risk
RS869312984
Pathogenic
Nephrotic syndrome, type 13, Nephrotic syndrome
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138776220 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139076870 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144797408 | Health Risk | Conflicting classifications of pathogenicity | NUP205-related disorder, NUP205-related disorder |
| RS145569015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147336077 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148613242 | Health Risk | Conflicting classifications of pathogenicity | NUP205-related disorder, NUP205-related disorder |
| RS150542529 | Health Risk | Conflicting classifications of pathogenicity | NUP205-related disorder, Nephrotic syndrome, type 13 |
| RS78254699 | Health Risk | Conflicting classifications of pathogenicity | NUP205-related disorder, NUP205-related disorder |
| RS1584675898 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 13, Nephrotic syndrome |
| RS869312984 | Health Risk | Pathogenic | Nephrotic syndrome, type 13, Nephrotic syndrome |