PDGFA-DT

Chr 7

PDGFA divergent transcript

Also known as: HRAT92

22
ClinVar variants
16
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryPDGFA-DT
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 6 VUS of 22 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

22 submitted variants in ClinVar

Classification Summary

Pathogenic16
VUS6
16
Pathogenic
6
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
Likely Pathogenic
0
VUS
6
Likely Benign
0
Benign
0
Total22

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PDGFA-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.