SLC35D2-HSD17B3

Chr 9

SLC35D2-HSD17B3 readthrough

NCBI Gene: 127748585

This locus represents naturally occurring readthrough transcription between the neighboring SLC35D2 (solute carrier family 35 member D2) and HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3) genes on chromosome 9. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Nov 2022]

0
Active trials
82
Pathogenic / LP
413
ClinVar variants
0
Pubs (1 yr)
—
Missense Z
—
LOEUF
Clinical Summary— SLC35D2-HSD17B3
📋
ClinVar Variants
82 Pathogenic / Likely Pathogenic· 112 VUS of 413 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC35D2-HSD17B3?content-type=application/json&expand=1

gnomad: Error: Gene not found

pubtator: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

413 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic33
VUS112
Likely Benign168
Benign40
Conflicting11
49
Pathogenic
33
Likely Pathogenic
112
VUS
168
Likely Benign
40
Benign
11
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
9
26
0
49
Likely Pathogenic
10
19
4
0
33
VUS
3
97
10
2
112
Likely Benign
0
6
95
67
168
Benign
0
1
38
1
40
Conflicting
—11
Total2713217370413

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SLC35D2-HSD17B3 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SLC35D2-HSD17B3

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