Variant "MKKS:c.1015A>G(p.Ile339Val)"
Search result: 1 record
Variant information
Gene:
MKKS 
Variant:
MKKS:c.1015A>G(p.Ile339Val) 
Genomic location:
chr20:10389422(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_018848.3:c.1015A>G(p.Ile339Val)
protein_coding NM_170784.2:c.1015A>G(p.Ile339Val)
pseudogene NR_072977.1:n.393A>G
dbSNP ID:
rs137853909  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Bardet-Biedl Syndrome (DOID_1935)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Modifier alleles for BBS
    Reference:
    PMID29127258
    Title:
    Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
    Species studied:
    Human
    Abstract:
    Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype.