rs199586231

This variant is located in the IGHMBP2 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters3 publications

Autosomal recessive distal spinal muscular atrophy 1; not provided; Charcot-Marie-Tooth disease axonal type 2S;Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease; Inborn genetic diseases

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About IGHMBP2

This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]

View all IGHMBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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