RRAGC-DT

Chr 1

RRAGC divergent transcript

Also known as: LENGA

86
ClinVar variants
3
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryRRAGC-DT
📋
ClinVar Variants
3 Pathogenic / Likely Pathogenic· 78 VUS of 86 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

86 submitted variants in ClinVar

Classification Summary

Pathogenic2
Likely Pathogenic1
VUS78
Likely Benign3
Benign2
2
Pathogenic
1
Likely Pathogenic
78
VUS
3
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
2
0
2
Likely Pathogenic
0
0
1
0
1
VUS
0
78
0
0
78
Likely Benign
0
1
1
1
3
Benign
0
2
0
0
2
Total0814186

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

View in ClinVar →

Protein Context — Lollipop Plot

RRAGC-DT · 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.