rs10960
- Benign
Your Genotype
Sign InDescription
This variant is associated with the following publications: (PMID: 9521593, 22608885)
The c.12133A>G, p.Ile4045Val variant was identified in 19.09% of 22171 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
T
Alternative Allele
A
C
Chromosome
16
Location
2090679
Variant Type
SNP
ClinVar
Name
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val)
Allele
C
Clinical Significance
Benign