rs782698277
- Uncertain significance
Your Genotype
Sign InDescription
Identified in the heterozygous state in a female with interstitial lung disease. The variant was also identified in the individual's asymptomatic mother and sister (Shelmerdine et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30922288, 30547349, 28898549)
Reference Allele
C
Alternative Allele
A
T
Chromosome
X
Location
154365388
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
Allele
T
Clinical Significance
Uncertain significance