Variant: rs886037759

present in Gene: MRPL21;IGHMBP2 present in Chromosome: 11 Position on Chromosome: 68903954 Alleles of this Variant: T/C

rs886037759 in MRPL21;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.