rs1064793942
- Likely pathogenic
- Likely pathogenic
Your Genotype
Sign InDescription
Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 15 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Reference Allele
C
Alternative Allele
A
T
Chromosome
11
Location
65720063
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_032193.4(RNASEH2C):c.450G>A (p.Trp150Ter)
Allele
T
Clinical Significance
Likely pathogenic
Name
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys)
Allele
A
Clinical Significance
Likely pathogenic