rs202094672
- Conflicting interpretations of pathogenicity
Your Genotype
Sign InDescription
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Reference Allele
G
Alternative Allele
C
Chromosome
2
Location
8731089
Variant Type
SNP
Genes
ClinVar
Name
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)
Allele
C
Clinical Significance
Conflicting interpretations of pathogenicity