CHROMOSOME 10 CUBN 10p13 GENE VIEW CUBN · 10p13 10p14 10p12 rs386833787 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs386833787 Glycine 1390 → Serine C / T · CUBN · 10p13 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs386833787

Glycine 1390 → Serine Gene: CUBN — Cubilin Chr 10:17019833 10p13 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Total C 0.999995T 0.000005CC 0.99999CT/TC 0.00001TT 0pop=200,910
European C 0.999994T 0.000006CC 0.999987CT/TC 0.000013TT 0pop=158,830

Studies1

Unread Studies1
1
Systemic sclerosis is a rare autoimmune disease of the connective tissue that affects mostly women. It is characterized by fibrosis and inflammation of the skin, blood vessels and internal organs. Being a mult ifactorial disease, it is believed to occur in genetically susceptible individuals after the effect of various environmental triggers. Vitamin D3 is a well-studied molecule with a plethora of functions, including regulation of the immune system. Due to this trait, vitamin D deficiency is believed to play a crucial role in the development of various diseases of the immune system. During this master thesis, a number of single nucleotide polymorphisms (SNPs) were investigated on vitamin D-related genes, regarding their relationship with systemic sclerosis susceptibility, as well as whole vitamin D serum levels.
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0

No unused studies.