rs1057519300
- Pathogenic
Your Genotype
Sign InDescription
Reference Allele
C
Alternative Allele
T
Chromosome
2
Location
8733447
Variant Type
SNP
Genes
ClinVar
Name
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)
Allele
T
Clinical Significance
Pathogenic