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SDR39U1

Synonyms
C14orf124, HCDI
External resources
Summary
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
17
Likely pathogenic
150
VUS
3,802
Likely benign
0
Benign
0

Patient Phenotypes

Proportions of phenotypes among 165 patients carrying pathogenic or likely pathogenic variants on SDR39U1 gene are displayed below. The following symptoms were found in patients with a variant in SDR39U1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the cardiovascular system
24.2%
Abnormality of the musculoskeletal system
23%
Abnormality of head or neck
22.4%
Abnormality of the ear
15.8%
Growth abnormality
14.5%
Abnormality of the eye
11.5%
Abnormality of the genitourinary system
7.9%
Abnormality of limbs
5.5%
Abnormality of prenatal development or birth
5.5%
Abnormality of metabolism homeostasis
4.8%
Abnormality of the digestive system
4.2%
Abnormality of the integument
4.2%
Abnormality of the endocrine system
3%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of the immune system
1.8%
Abnormality of the respiratory system
1.8%
Neoplasm
1.8%
Abnormality of the voice
0.6%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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