rs1554841994
- Pathogenic
Your Genotype
Sign InDescription
RPS24 p.T50P was confirmed de novo by sequencing both parents of an affected proband.
Reference Allele
A
Alternative Allele
C
Chromosome
10
Location
78035589
Variant Type
SNP
Genes
Phenotypes
ClinVar
Name
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro)
Allele
C
Clinical Significance
Pathogenic