SDR9C7

Chr 12

short chain dehydrogenase/reductase family 9C member 7

Also known as: ARCI13, RDHS, SDR-O, SDRO

NCBI Gene: 121214ENSG00000170426UniProt: Q8NEX9

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIchthyosis, congenital, autosomal recessive 13
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SDR9C7
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.012
Z-score 1.87
OE 0.42 (0.22–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.63Z-score
OE missense 0.87 (0.77–0.99)
172 obs / 197.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.22–0.88)
0≤0.351.4
Missense OE?0.87 (0.77–0.99)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 5 / 12.0Missense obs/exp: 172 / 197.0Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SDR9C7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients