Variant: rs771551765 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93815388
    Alleles of this Variant: G/A

rs771551765 in TMEM67 gene and JOUBERT SYNDROME 6 PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

PMID 10567047 1999 Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

rs771551765 in TMEM67 gene and Microcephaly (physical finding) PMID 10567047 1999 Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

rs771551765 in TMEM67 gene and Spastic Paraplegia PMID 10567047 1999 Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

PMID 27457812 2017 Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.