AGK-DT

Chr 7

AGK divergent transcript

21
ClinVar variants
19
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryAGK-DT
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 1 VUS of 21 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
VUS1
Benign1
18
Pathogenic
1
Likely Pathogenic
1
VUS
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
Likely Pathogenic
1
VUS
1
Likely Benign
0
Benign
1
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AGK-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.