CDRT3

Chr 17

CMT1A duplicated region transcript 3

44
ClinVar variants
43
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCDRT3
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 1 VUS of 44 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CDRT3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

44 submitted variants in ClinVar

Classification Summary

Pathogenic41
Likely Pathogenic2
VUS1
41
Pathogenic
2
Likely Pathogenic
1
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
41
Likely Pathogenic
2
VUS
1
Likely Benign
0
Benign
0
Total44

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CDRT3 · 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.