Variant: rs746581714 

    present in Gene: IGHMBP2
    present in Chromosome: 11
    Position on Chromosome: 68917801
    Alleles of this Variant: AAGAA/-

rs746581714 in IGHMBP2 gene and Axonal polyneuropathy PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

rs746581714 in IGHMBP2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

rs746581714 in IGHMBP2 gene and Respiratory Failure PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

rs746581714 in IGHMBP2 gene and SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.