CCDC192

Chr 5

coiled-coil domain containing 192

Also known as: LINC01183

7
ClinVar variants
7
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCCDC192
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic of 7 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

7 submitted variants in ClinVar

Classification Summary

Pathogenic7
7
Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
7
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total7

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CCDC192 · 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.