rs797044873
- Likely pathogenic
Your Genotype
Sign InDescription
Variant interpretted as Likely pathogenic and reported on 03-09-2018 by Lab or GTR ID 61756. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
This variant was identified as de novo (maternity and paternity confirmed).
Reference Allele
G
Alternative Allele
T
Chromosome
20
Location
10284751
Variant Type
SNP
Genes
ClinVar
Name
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
Allele
T
Clinical Significance
Likely pathogenic