Variant "ANKH:c.294C>T(p.Ala98Ala)"
Search result: 1 record
Variant information
Gene:
ANKH 
Variant:
ANKH:c.294C>T(p.Ala98Ala) 
Genomic location:
chr5:14769103(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_054027.4:c.294C>T(p.Ala98Ala)
dbSNP ID:
rs17251667  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Pseudoxanthoma Elasticum (DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0012 
    Effect:
    PXE was highly associated with ANKH p.A98A genotype TT
    Reference:
    PMID25025693
    Title:
    Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
    Species studied:
    Human
    Abstract:
    Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers. Because of the great clinical variability between PXE patients the involvement of modifier genes was recently suggested. Therefore, we investigated the association of single nucleotide variants (SNVs) in selected candidate genes known to regulate cellular pyrophosphate metabolism.