SMC5-DT

Chr 9

MAMDC2 antisense RNA 1

Also known as: SMC5-DT

NCBI Gene: 100507244
41
ClinVar variants
20
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SMC5-DT
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic· 16 VUS of 41 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SMC5-DT?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

41 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic3
VUS16
Benign2
17
Pathogenic
3
Likely Pathogenic
16
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
3
0
3
VUS
0
15
1
0
16
Likely Benign
0
0
0
0
0
Benign
0
2
0
0
2
Total01721038

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

View in ClinVar →

Protein Context — Lollipop Plot

SMC5-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SMC5-DT

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