Variant: rs267607116 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93808861
    Alleles of this Variant: G/A;C

rs267607116 in TMEM67 gene and Cerebellar Ataxia PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and Cerebellar vermis hypoplasia PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and Dysmorphic facies PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and Hydrocephalus PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and JOUBERT SYNDROME 6 PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and NEPHRONOPHTHISIS 11 PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs267607116 in TMEM67 gene and Nephronophthisis PMID 19508969 2009 When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.

rs267607116 in TMEM67 gene and Poor school performance PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).