rs147362981
- Uncertain significance
Your Genotype
Sign InDescription
COLEC11 NM_024027.4 exon 2 p.Val10Phe (c.28G>T): This variant has not been reported in the literature but is present in 0.0001% (1/129162) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-3651958-G-T?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Reference Allele
G
Alternative Allele
A
C
T
Chromosome
2
Location
3604368
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_024027.5(COLEC11):c.28G>T (p.Val10Phe)
Allele
T
Clinical Significance
Uncertain significance