rs61884288
This is a variant in the HPS5 gene that changes a threonine to an isoleucine.
▶ClinVar annotation
Hermansky-Pudlak syndrome 5 (HPS5); not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Disease variants in genomes of 44 centenariansCase reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics & Genomic Medicine
Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.
About HPS5
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
View all HPS5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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