FAM230E

Chr 22

family with sequence similarity 230 member E

Also known as: LINC01662

157
ClinVar variants
143
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryFAM230E
📋
ClinVar Variants
143 Pathogenic / Likely Pathogenic· 8 VUS of 157 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

157 submitted variants in ClinVar

Classification Summary

Pathogenic143
VUS8
Likely Benign6
143
Pathogenic
8
VUS
6
Likely Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
143
Likely Pathogenic
0
VUS
8
Likely Benign
6
Benign
0
Total157

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM230E · 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.