MNS16A

Chr 5

MNS16A minisatellite promoter

This region represents a promoter located downstream of the telomerase reverse transcriptase (TERT) gene. This sequence contains a VNTR (variable number tandem repeat) minisatellite sequence that may be associated with cancer risk. [provided by RefSeq, Aug 2017]

63
ClinVar variants
56
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryMNS16A
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 5 VUS of 63 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MNS16A?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

63 submitted variants in ClinVar

Classification Summary

Pathogenic56
VUS5
Likely Benign2
56
Pathogenic
5
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
56
Likely Pathogenic
0
VUS
5
Likely Benign
2
Benign
0
Total63

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MNS16A · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →