FAM242E

Chr 9

family with sequence similarity 242 member E

I cannot write a clinical summary for FAM242E as no information about this gene's protein function, associated diseases, inheritance pattern, or pathogenic mechanisms has been provided in the data below the gene name. Without this essential clinical information, I cannot produce an accurate summary that meets the specified requirements.

Clinical SummaryFAM242E
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ClinVar Variants
20 unique Pathogenic / Likely Pathogenic of 21 total submissions

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

FAM242E · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →

No publications found for FAM242E