FAM88D

Chr 9

family with sequence similarity 88 member D

I cannot provide a clinical summary for FAM88D as no information about this gene's protein function, associated diseases, or inheritance pattern has been provided in the data below your instructions. To write an accurate clinical summary following your guidelines, I would need specific information about what the FAM88D protein does, what conditions result from mutations in this gene, and how those conditions are inherited.

Clinical SummaryFAM88D
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ClinVar Variants
19 unique Pathogenic / Likely Pathogenic of 19 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

19 submitted variants in ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic1
18
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
18
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
0
Total19

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM88D · 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 FAM88D