CTB-99A3.1

Chr 5

PPP2R2B antisense RNA 2

Also known as: CTB-99A3.1

16
ClinVar variants
1
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCTB-99A3.1
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 15 VUS of 16 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CTB-99A3.1?content-type=application/json&expand=1

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

16 submitted variants in ClinVar

Classification Summary

Pathogenic1
VUS15
1
Pathogenic
15
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
1
0
1
Likely Pathogenic
0
0
0
0
0
VUS
0
15
0
0
15
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0151016

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

View in ClinVar →

Protein Context — Lollipop Plot

CTB-99A3.1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

3 OMIM entries