rs6856
This variant is located in the BSCL2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
smoking initiation
▶ClinVar annotation
not specified; Neuronopathy, distal hereditary motor, type 5A; Congenital generalized lipodystrophy type 2; Charcot-Marie-Tooth disease type 2; Neuronopathy, distal hereditary motor, type 5C; Severe neurodegenerative syndrome with lipodystrophy; Hereditary spastic paraplegia 17; not provided; Hereditary spastic paraplegia; Triangular shaped proximal phalanx of the thumb;Neutrophilia in presence of infection;Isolated systolic hypertension; Lipodystrophy
View on ClinVar →About BSCL2
This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]
View all BSCL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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