Variant: rs137853106 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93782456
    Alleles of this Variant: A/C

rs137853106 in TMEM67 gene and Meckel syndrome type 3 PMID 17185389 2007 The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

PMID 17377820 2007 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.