TXNDC15 Chromosome 5
Thioredoxin domain containing 15
Upload your DNA to see your personal genotypes for variants in TXNDC15.
What This Gene Does
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
Thioredoxin domain containing
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000113621
Associated Conditions (3)
Inborn genetic diseases
Meckel syndrome 14
Meckel-Gruber syndrome
Key Variants
RS149625993
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199499193
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2150192064
Pathogenic
Meckel syndrome 14, Meckel syndrome 14
Health Risk
RS371232361
Pathogenic
Health Risk
RS760579409
Pathogenic
Meckel syndrome 14, Meckel syndrome 14
Health Risk
RS768237094
Pathogenic
Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome
Health Risk
RS780024847
Pathogenic
Meckel syndrome 14, Meckel syndrome 14
Health Risk
RS886039791
Pathogenic
Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome
Health Risk
RS886039792
Pathogenic
Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149625993 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199499193 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2150192064 | Health Risk | Pathogenic | Meckel syndrome 14, Meckel syndrome 14 |
| RS371232361 | Health Risk | Pathogenic | — |
| RS760579409 | Health Risk | Pathogenic | Meckel syndrome 14, Meckel syndrome 14 |
| RS768237094 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome |
| RS780024847 | Health Risk | Pathogenic | Meckel syndrome 14, Meckel syndrome 14 |
| RS886039791 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome |
| RS886039792 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Meckel syndrome 14, Meckel-Gruber syndrome |