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STARD3NL

Synonyms
MENTHO
External resources
Summary
This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64).

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
632
Likely benign
103
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on STARD3NL gene.

Phenotype class
Patients in 3billion (%)

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