FAM27E4

Chr 9

family with sequence similarity 27 member E4

Also known as: FAM27E4P

21
ClinVar variants
20
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryFAM27E4
📋
ClinVar Variants
20 Pathogenic / Likely Pathogenic of 21 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FAM27E4?content-type=application/json&expand=1

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Benign1
19
Pathogenic
1
Likely Pathogenic
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
1
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM27E4 · 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.