rs3209986
- Benign
Your Genotype
Sign InDescription
The c.12176C>T, p.Ala4059Val variant was identified in 6.84 % of 7606 control alleles in the Exome Aggregation Consortium (March 14, 2016). According to ACMG guidelines for variant classification based on allele frequency, category BA1, this variant is considered benign and has not been further reviewed (Richards 2015).
Reference Allele
G
Alternative Allele
A
C
Chromosome
16
Location
2090553
Variant Type
SNP
ClinVar
Name
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val)
Allele
A
Clinical Significance
Benign