rs55758736
This is a variant in the BLK gene that changes a alanine to an threonine.
▶ClinVar annotation
Maturity-onset diabetes of the young type 11; Monogenic diabetes; 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 BLK
This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
View all BLK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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