rs1028575136
- Uncertain significance
Your Genotype
Sign InDescription
The p.Lys366Glu variant in SAMD11 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
Reference Allele
A
Alternative Allele
G
Chromosome
1
Location
942590
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)
Allele
G
Clinical Significance
Uncertain significance