Variant: rs1057518588 

    present in Gene: IGHMBP2
    present in Chromosome: 11
    Position on Chromosome: 68908632
    Alleles of this Variant: G/A

rs1057518588 in IGHMBP2 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S PMID 25439726 2014 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

PMID 25568292 2015 Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

PMID 14681881 2003 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

rs1057518588 in IGHMBP2 gene and SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 PMID 14681881 2003 Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

PMID 25568292 2015 Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

PMID 25439726 2014 Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.