Variant "PKD1:c.5307T>C(p.His1769His)"
Search result: 1 record
Variant information
Gene:
PKD1 
Variant:
PKD1:c.5307T>C(p.His1769His) 
Genomic location:
chr16:2159861(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001009944.2:c.5307T>C(p.His1769His)
protein_coding NM_000296.3:c.5307T>C(p.His1769His)
pseudogene NR_106775.1:n.-3107T>C
pseudogene NR_106965.1:n.-3112T>C
dbSNP ID:
rs575064371  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Autosomal Dominant Polycystic Kidney Disease (DOID_898)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    The PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.
    Reference:
    PMID25880449
    Title:
    A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with autosomal dominant polycystic kidney disease.
    Species studied:
    Human
    Abstract:
    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.