SDR9C7 Chromosome 12
Short chain dehydrogenase/reductase family 9C member 7
Upload your DNA to see your personal genotypes for variants in SDR9C7.
What This Gene Does
This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000170426
Associated Conditions (10)
Ichthyosis
congenital
autosomal recessive 13
Lamellar ichthyosis
Ichthyosis and erythrokeratoderma
Inborn genetic diseases
Congenital ichthyosis of skin
Intellectual disability
autosomal recessive 53
SDR9C7-related disorder
Key Variants
RS138435128
Conflicting classifications of pathogenicity
Ichthyosis, congenital, autosomal recessive 13
Health Risk
RS139870455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140482532
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201598330
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202221198
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS267603591
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS764593071
Conflicting classifications of pathogenicity
Congenital ichthyosis of skin, Ichthyosis, congenital
Health Risk
RS770729222
Conflicting classifications of pathogenicity
Ichthyosis, congenital, autosomal recessive 13
Health Risk
RS530109812
Pathogenic
Ichthyosis, congenital, autosomal recessive 13
Health Risk
RS760309815
Pathogenic
Ichthyosis, congenital, autosomal recessive 13
Health Risk
RS774363396
Pathogenic
Ichthyosis, congenital, autosomal recessive 13
Health Risk
RS538068583
Pathogenic/Likely pathogenic
Congenital ichthyosis of skin, Lamellar ichthyosis, Congenital ichthyosis of skin
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138435128 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis, congenital, autosomal recessive 13 |
| RS139870455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140482532 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201598330 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202221198 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS267603591 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS764593071 | Health Risk | Conflicting classifications of pathogenicity | Congenital ichthyosis of skin, Ichthyosis, congenital |
| RS770729222 | Health Risk | Conflicting classifications of pathogenicity | Ichthyosis, congenital, autosomal recessive 13 |
| RS530109812 | Health Risk | Pathogenic | Ichthyosis, congenital, autosomal recessive 13 |
| RS760309815 | Health Risk | Pathogenic | Ichthyosis, congenital, autosomal recessive 13 |
| RS774363396 | Health Risk | Pathogenic | Ichthyosis, congenital, autosomal recessive 13 |
| RS538068583 | Health Risk | Pathogenic/Likely pathogenic | Congenital ichthyosis of skin, Lamellar ichthyosis, Congenital ichthyosis of skin |