KLHL7-DT

Chr 7

KLHL7 divergent transcript

Also known as: KLHL7-AS1, PLATAK

39
ClinVar variants
30
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryKLHL7-DT
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 9 VUS of 39 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

39 submitted variants in ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic2
VUS9
28
Pathogenic
2
Likely Pathogenic
9
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
28
Likely Pathogenic
2
VUS
9
Likely Benign
0
Benign
0
Total39

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KLHL7-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.